genetic discrimination case study

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Article Contents

I. overview of gina, ii. how the courts interpret ‘genetic information’ under gina, iii. toward a consistent understanding of ‘genetic information’.

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GINA at 10 years: the battle over ‘genetic information’ continues in court

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Sonia M Suter, GINA at 10 years: the battle over ‘genetic information’ continues in court, Journal of Law and the Biosciences , Volume 5, Issue 3, December 2018, Pages 495–526, https://doi.org/10.1093/jlb/lsz002

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Ten years ago, the Genetic Information Nondiscrimination Act (‘GINA’) came into law. While it was unclear how prevalent genetic discrimination was, GINA was enacted preemptively to prevent discrimination in insurance and employment. It also created uniform protections to remedy a confusing patchwork of state and federal protections. Finally, Congress hoped GINA would allay public fears of genetic discrimination that discouraged people from undergoing genetic testing and participating in genetics research. To address those fears, Congress enacted robust protections against genetic discrimination in health insurance and employment, in part, by defining ‘genetic information’ as broadly as possible.

Over the last ten years, however, the courts have been battling over the meaning of ‘genetic information’. One interpretive approach adheres strictly to GINA's statutory language; the second interprets the definition restrictively and contrary to the plain meaning of GINA and its underlying goals. While this interpretive conflict demonstrates the difficulty of distinguishing genetic information from non-medical information, this article argues for the broader interpretation. Such an interpretation reflects Congress's choice among imperfect definitional options and it furthers the goal of creating strong protections in health insurance and employment. Finally, definitional consistency is necessary to achieve uniform protections against genetic discrimination.

If you took a genetic test and learned that you faced an increased risk of breast or ovarian cancer, could you be denied employment opportunities based on that risk? Could your employer even ask about or obtain such information? It would not surprise many people to learn that because of a federal law—the Genetic Information Nondiscrimination Act (‘GINA’) 1 —the answer to these questions is ‘no’.

But what about information regarding the health of your family members? What if your parent had been diagnosed with AIDS or your spouse had developed multiple sclerosis? Does GINA prohibit your employer from obtaining or using such information to make employment decisions? Does such information have anything to do with genetic discrimination? One might imagine, at first glance, that GINA does not, and perhaps should not, apply to such information. Indeed, some courts have so ruled. This article argues, however, that GINA extended its protections to such scenarios through its broad definition of ‘genetic information’, and that doing so is consistent with Congress's goal of preventing genetic discrimination.

GINA was signed into law 10 years ago by President Bush after Congress passed it by ‘a near-unanimous vote’. 2 The legislation was viewed as a real victory in bringing about federal protections against genetic discrimination. Senator Ted Kennedy, for example, hailed GINA as the ‘first civil rights bill of the new century of the life sciences’. 3 The passage of this legislation was no small task. It represented the culmination of 13 years of efforts that began in 1995 when the late Congresswoman Louise Slaughter (D-NY) and Senator Olympia Snowe (R-ME) introduced the first federal legislation limiting genetic discrimination. 4 While the original bill focused only on health insurance discrimination, variations introduced in each subsequent Congress ultimately expanded the scope of protection to include employment discrimination. Although these legislative efforts received bipartisan support in both the House and Senate, inaction in the House prevented its becoming law for over a decade. Finally, by a vote of 414–1 and 95–0, respectively, the House and Senate passed GINA, and it was signed into law on May 21, 2008. 5

The story of why GINA was enacted is complex, involving a sometimes surprising mix of bedfellows: not only the expected patient advocates, consumer groups, medical profession, and researchers, but also ‘the medical products industry and pharmaceutical companies’. 6 The obvious rationale for such legislation was to prevent genetic discrimination. 7 But as scholars have pointed out, GINA was unusual in legislating against a form of discrimination that had not historically been problematic or pervasive. 8 In contrast, Title I of the American with Disabilities Act (‘ADA’) and Title VII of the Civil Rights Act of 1964 were enacted to counter a history of discrimination based on, respectively, disability and sex, race, color, national origin, or religion. 9 In other words, GINA was preemptive, intended to prevent genetic discrimination from ever becoming a problem. 10

Major advances in genetics research, such as the federal funding in 1990 of the Human Genome Project (‘HGP’), stoked concerns about genetic discrimination. The federal government planned to invest $3 billion to decode the full sequence of the 3 billion base-pair human genome and to identify all of its genes. 11 In ‘herald[ing] the “genomic age”’, 12 the HGP and other genetics research were intended to expand our ability to identify genetic risks and understand the role of genetics in disease. While such information promised to improve preventive and precision medicine, it reinforced a growing propensity to understand and explain human illness and traits in genetics terms, perpetuating the allure of genetics determinism—the idea that our ‘genes determine and explain everything about us’. 13 Such attitudes heightened worries among scholars and legislators that employers and insurers would increasingly find genetic information useful in predicting the health risk of individuals and perhaps even define them according to their genetic make-up. In other words, it threatened genetic discrimination.

Although some studies in the early 1990s purported to demonstrate that genetic discrimination was already a great problem, 14 the evidence was largely equivocal. Instead, there were many reasons to believe that genetic discrimination was not a significant issue—at least, not yet. 15 Nevertheless, the reports of these studies and endless references to the risk of genetic discrimination in media accounts of genetic discoveries 16 persuaded the public that genetic discrimination was a serious concern. Even if not grounded in strong evidence of existing discrimination, these worries resulted in behavior that researchers and health care providers found troubling: many individuals were reluctant to avail themselves of new genetic tests for their own health care or to participate in genetics research. 17

Two sets of concerns, therefore, were the impetus for genetic nondiscrimination legislation at the state and federal levels: worries about the potential for actual genetic discrimination and apprehension about the public health and research implications of public fears of genetic discrimination (whether or not genetic discrimination was prevalent). States began to enact genetic-specific legislation in the 1990s with a focus primarily on preventing discrimination in the context of health insurance and employment. 18 The challenge, however, was that state laws differed in various respects—whether they prohibited genetic discrimination at all and, if so, what uses of genetic information they proscribed and how they defined ‘genetic information’. 19 Further, although the Health Insurance Portability and Accountability Act (“HIPAA”) (unbeknownst to many) prohibited genetic discrimination against individuals in employer-sponsored group health plans, 20 it did not provide full protections. 21 As a result, until GINA was enacted, legislation prohibiting genetic discrimination at the state and federal level was ‘incomplete in both the scope and depth of its protections’. 22

Thus, the motivation behind GINA was more than just preemptive. It was also geared at remedying ‘the patchwork of State and Federal laws’, which the public found ‘confusing and inadequate to protect them from discrimination’. 23 But most significantly, by developing a ‘uniform basic standard’ at the federal level ‘to fully protect the public from discrimination’, the goal of GINA was to ‘allay [public] concerns about the potential for discrimination’ so individuals would take advantage of genetic testing and new therapies as well as participate in genomics research. 24

By limiting its focus on health insurance and employment, however, GINA did not entirely deliver on its promise ‘to fully protect the public from discrimination’. 25 The risks of genetic discrimination are arguably as great, if not greater, with respect to other lines of insurance such as life, disability, or long-term care insurance. Nevertheless, lobbying efforts within those industries and a sense that health insurance differs in important ways from other forms of insurance contributed to nondiscrimination protections that focused only on health insurance and employment at the federal level and in many states. 26

An additional challenge that Congress faced in drafting GINA was deciding how to define ‘genetic information’, a problem with which state legislatures had also grappled in drafting their own genetics legislation. Many state laws define ‘genetic information’ narrowly as the result of genetic tests or sometimes a bit more broadly as the result of genetic tests of family members. 27 Advocates of genetic antidiscrimination laws, however, criticized these definitions as inadequate because genetic information can be obtained not merely from the result of genetic tests, but also from family history. In an effort to protect the public ‘fully’ against genetic discrimination, therefore, Congress defined ‘genetic information’ broadly to include family history.

Congresses’s definitional task was not simple. As I describe in Part III, attempting to distinguish genetic information from other medical information is conceptually fraught because there are no bright lines between what is genetic or non-genetic medical information; the real distinction is the degree to which genetics or environment play a role. Additionally, many understandings of genetic discrimination are limited to discrimination based on predisposition to, as opposed to actual manifestation of, disease. Indeed, in the debates over how to define ‘genetic information’ in GINA, some legislators criticized the proposed broad definition as failing to reflect the primary goal of GINA: to ‘combat[] discrimination based on one's propensity for disease’. 28 Clearly concerned that too narrow a definition would not adequately or fully protect against genetic discrimination (and in spite of the objections), Congress adopted the proposed definition—arguably one of the broadest legislative definitions of genetic information. 29

In the last 10 years, however, the courts have been divided over how to interpret GINA’s definition of ‘genetic information’, reflecting the legislative debate within Congress about the appropriate breadth of the term. The result is two different conceptions of what constitutes ‘genetic information’ under GINA. One adheres strictly to the statutory language and broad definition; the second narrows the definition in light of GINA's goals to protect against discrimination based on information predictive of future disease. 30 While on first glance, the second approach might seem appropriate given that genetic discrimination is often defined as propensity for disease, this article critiques such a reading of GINA as deviating from the plain language of the statute and inconsistent with Congress’ explicit efforts to define genetic information broadly. Given the impossibility of defining genetic information precisely because of the spectrum of heritability of medical conditions and the lack of a clear line between what is definitively inheritable and what is not, 31 Congress opted for a definition that would be fully inclusive of information that could be used to determine propensity to disease. That such a definition might be overbroad on occasion was presumably the price Congress was willing to pay to protect against genetic discrimination.

This article begins in Part I by briefly describing GINA and the scope of its protections. Part II details the contrasting judicial interpretations of GINA with respect to genetic information. Part III critiques the narrower approach, arguing that it is not only inconsistent with the plain meaning of the text of GINA, but in subtle and less subtle ways, it deviates from the underlying goals of the statute to define genetic information broadly and to develop bright-line rules for enforcement and compliance purposes. The piece ends by noting that the conflicting interpretive approaches reflect the difficulties of trying to distinguish genetic information from non-medical information. The challenge of this task highlights the conceptual problems of singling out protections for just genetic information. As a result, it ends by offering suggestions for how some of GINA's protections might be broadened beyond genetic information. Congress, however, decided to address genetic discrimination, a goal that had considerable political support. In doing so, it made a particular definitional choice among imperfect options. The courts should not undo those efforts simply because they would have made a different choice had they drafted the legislation themselves. As long as we have genetic-specific legislation, we must achieve consistency in its application.

GINA comprises three titles. The two main parts are Title I, which prohibits genetic discrimination with respect to health insurance, and Title II, which bans genetic discrimination in employment. 32 Title I amends various federal laws to prohibit genetic discrimination by all forms of health insurance providers, including employer-sponsored group health plans and health insurance issuers providing group health insurance 33 or individual health coverage. 34 It protects against health insurance discrimination by proscribing various discriminatory uses of genetic information. For example, GINA prohibits decisions about premium rates or contribution rates for group health plans based on genetic information regarding an individual in the group. 35 Because the HIPAA already prohibited the use of genetic information to determine eligibility or set premiums and the treatment of genetic information as a preexisting condition for employer-sponsored group health plans, 36 GINA fortified protections with respect to group plans by prohibiting discrimination of groups in their entirety and including non-employer group plans in these protections. 37

‘GINA’s main value’, however, was its protection with respect to the individual insurance market, for which there had been no federal protection and only a patchwork of protection at the state level. 38 Under GINA, health insurers that offered coverage in the individual market could no longer establish eligibility, set premium rates, or impose preexisting condition exclusions based on genetic information. 39 Of course once the Patient Protection and Affordable Care Act of 2010 (‘ACA’) 40 became law two years after GINA was enacted, it imposed significant reforms to private health insurance, many of which overlap with the protections under Title I of GINA. 41

An additional federal protection with respect to insurance offered through individual or group plans was Title I’s prohibitions of insurer access to genetic information. Thus, health plans or health insurance issuers of group or individual health insurance may not request or require individuals or their family members to undergo a genetic test. Nor may they request, require, or purchase an individual's genetic information for underwriting or enrollment purposes. 42

Like Title I, Title II prohibits genetic discrimination by proscribing discriminatory uses of genetic information. The difference, of course, is that the prohibitions in Title II apply to employment decisions based on genetic information, such as hiring; discharging; determining compensation, terms, conditions, and privileges of employment 43 ; or limiting, segregating, or classifying an employee in ways that could deprive the employee of employment opportunities or ‘adversely affect the status of the employee’ based on genetic information. 44

In addition, GINA also proscribes employers from acquiring genetic information. As some scholars have noted, this reflects a privacy protection that is distinct from, but that can also bolster, the antidiscrimination features of GINA. 45 Because it can be difficult to prove that employment decisions are based on genetic discrimination, this provision prevents employers from obtaining information that they may be tempted to use for discriminatory purposes, and it eliminates the burden of trying to establish whether access to genetic information played a role in adverse employment decisions. Thus, under GINA, employers may not ‘request, require, or purchase’ an employee's genetic information with a few exceptions. 46

As noted in the introduction, a significant issue in drafting GINA was the definition of ‘genetic information’. It is worth noting that Congress made no distinctions in its definitions with respect to the privacy or antidiscrimination provisions of GINA, suggesting that although these provisions address distinct interests, they are interrelated. Although there was some disagreement in the floor debates, 47 Congress ultimately chose a very broad definition, which recognizes that genetic information can exist in many forms: the result of genetic tests of an individual or an individual's family members, the presence of disease in family members (ie family history), as well as the request or receipt of genetic services and participation in clinical research by the individual or family member. Thus, both Title I and Title II define an individual's ‘genetic information’ as ‘information about (i) such individual's genetic tests, (ii) the genetic tests of family members of such individual, and (iii) the manifestation of a disease or disorder in family members of such individual’. 48

This definition includes what most people think of as genetic information: the results of genetic tests. GINA defines genetic tests not only as ‘an analysis of human DNA, RNA, chromosomes’, but also as analysis of ‘proteins or metabolites that detects genotypes, mutations, or chromosomal changes’, 49 recognizing that genetic risks can sometimes be detected indirectly through analysis of molecules other than DNA, RNA, or chromosomes. GINA also adopts the broader conception of genetic information: family history, which includes not only genetic tests of family members, but also the manifestation of disease or disorder in family members. This broad definition recognizes that important genetic information can exist, for example, if family members have been diagnosed with a genetic condition like Huntington's disease or even less fully penetrant heritable conditions, like breast or ovarian cancer. 50

Perhaps because the line between genetic information and non-genetic information is somewhat blurry, however, Congress did not make distinctions between medical diagnoses in family members that are explicitly defined as genetic diseases. Congress could have modified or limited the kind of family history that would be considered genetic information. For example, it might have defined family history as the ‘manifestation of an inheritable disease or disorder in the family members’. Notably, however, GINA's definition of family history does not modify the nature of disease or disorder in a family member in such a manner. 51 The definition extends even further by including ‘any request for, or receipt of, genetic services, or participation in clinical research, which includes genetic services’ by the individual or her family member, 52 whether or not the family member is ultimately found to have a heritable genetic condition. The resulting definition of genetic information, therefore, is not only broad in including family history, but also broad in its conception of family history. Such an expansive definition includes family history, even if it is not necessarily predictive of an employee's disease propensity.

Despite defining genetic information broadly, Congress limited the scope of protections against genetic discrimination in two key ways. First, GINA does not address areas where genetic discrimination may be more likely, such as in the context of life, long-term care, or disability insurance. 53 There is little in the legislative history to explain this decision, although, as noted earlier, it is likely a consequence of limited political will and lobbying on the part of the insurance industries to limit GINA's protections to health insurance. 54 Second, it provides no protections for symptomatic individuals. Title I’s prohibition against insurance discrimination does not preclude insurers from making health insurance decisions ‘based on the manifestation of a disease or disorder of an individual’. 55 Similarly, Title II explicitly distinguishes genetic information from information about manifested genetic conditions, stating that GINA does not prohibit employers or covered entities from using, acquiring, or disclosing ‘medical information that is not genetic information about a manifested disease, disorder, or pathological condition of an employee or member, including a manifested disease, disorder, or pathological condition that has or may have a genetic basis’ . 56 Once a genetic risk develops into a manifested condition, GINA no longer applies. At that point, any federal protection against health insurance and employment discrimination depends on, respectively, the ACA and the American with Disabilities Act (‘ADA’). 57 In making clear that medical information about a manifested genetic (or non-genetic) condition in an individual is not ‘genetic information’ about that individual, Congress narrowed the definition of ‘genetic information’ in this respect considerably. 58

GINA’s distinction between ‘manifested’ genetic disease and genetic risk reflects the view of many that genetic discrimination is problematic when it is based on presymptomatic genetic information, ie information about genetic risks before the condition develops. 59 The concern is that people might be denied access to insurance or employment based on a potential risk of illness that may never manifest or may only develop years later. Many find this deeply problematic because genetic inheritance is immutable and beyond our control. 60 In addition, presymptomatic genetic information is viewed as deeply private, not only because it is personal, sensitive, and potentially stigmatizing, but also because it can be hidden from others, and even from ourselves, before the disease develops, if it ever will. 61

As we shall see in Part II, one strand of case law relies on GINA’s focus on presymptomatic genetic discrimination to interpret ‘genetic information’ based on whether the information at issue, including family history, is predictive of disease risk. While this narrow interpretation may initially seem appealing and consistent with the goals of Congress, as Part III argues in more detail, it is problematic for several reasons. First, it goes against the unambiguous statutory language of GINA and it defeats Congress’ goal of trying to provide full protection of genetic information. While Congress enacted GINA because of a concern for discrimination based on predisposition, the broad definition reflects a recognition of the impossibility of drawing a bright line between clearly inheritable diseases and those that are not inheritable. Since any definition will inevitably be either overbroad or too narrow, Congress seemed quite willing to err on the side of breadth over narrowness in defining family history.

Second, any definition that attempts to define ‘genetic information’ in terms of its ability to identify a propensity for disease raises difficult enforcement and compliance problems for the EEOC and covered entities, respectively. Neither is well positioned to make medical judgements as to how predictive such information is of future health risks. Even within medicine, our understanding of genetics and patterns of inheritance is continually evolving.

Third, the (sometimes over-inclusive) definition of ‘genetic information’ that Congress adopted does not require analysis of the employer's perceptions or beliefs about the predictive value of the information. Given the challenges of demonstrating discriminatory intent, GINA claims would be even harder to bring if employees would have to demonstrate the employer's state of mind with respect to whether they viewed family history as genetic information or not.

Finally, Congress may have been concerned about discrimination based on an employer's desires to avoid high health care costs of family members. While an employee's health care costs might also be a concern, the ADA provides protections against discrimination based on manifested illnesses that constitute a disability, and GINA provides protections against discrimination based on genetic predisposition to disease. But the ADA does not protect against discrimination based on the health care costs of family members. Congress may not, therefore, have been too troubled by a definition of ‘genetic information’ that was not limited to family histories of inheritable genetic conditions, but included all family histories. Such a definition protects against employment discrimination either because the family history reveals a genetic risk in an employee or because of the family history presents cost concerns unrelated to an employee's risk of disease or qualifications for the job. We turn now to an exploration of the development of this case law before exploring in more detail the rationales for adopting the broader definition in Part III.

Although GINA was enacted 10 years ago, not many cases have dealt with GINA on a substantive level. Perhaps because the ACA's health insurance reforms overlap with many of the protections of Title I, GINA case law primarily concerns employment discrimination claims brought under Title II. 62 Often, GINA claims seem to be an afterthought, raised only after the plaintiff has alleged every other possible employment discrimination claim. As a result, a good many GINA claims have no colorable basis at all. 63 Nevertheless, a growing number of GINA employment claims do raise substantive issues and provide some insight into the judiciary's understanding of GINA.

The case law addresses two types of employment claims under GINA: 1) allegations that the employer made discriminatory employment decisions based on genetic information, and/or 2) allegations that the employer improperly acquired genetic information. Given that the latter is easier to establish than the former, it is not surprising that many GINA cases only concern assertions of improper acquisition of genetic information. Either kind of claim, however, requires the court to examine whether the information allegedly used for discriminatory purposes or allegedly acquired improperly constitutes ‘genetic information’, which is defined identically for both types of claims. Some of these cases were easily resolved in favor of the employer because the medical information concerned an individual's manifested condition, which is expressly distinguished from genetic information. 64 The information at issue in the remaining cases primarily concerns information about the health of family members; in one instance, it concerns information from genetic analysis that does not explicitly assess disease risk.

As we shall see, courts have taken two approaches to determine whether information at issue in GINA cases constitutes ‘genetic information’. The first approach, established by Poore v Peterbilt of Bristol, L.L.C. 65 and followed by a few other courts, construes genetic information narrowly and arguably contrary to explicit statutory language. The second approach construes genetic information broadly and in a manner consistent with both the goal of GINA and the statutory language. We begin with the first approach.

II.A. The Narrow Interpretation of ‘Genetic Information’

Poore v Peterbilt Bristol, L.L.C. , which was decided in 2012, was the first published case to address the question of whether medical information, other than information about an individual's manifested condition, constitutes genetic information under GINA. The employee, Mark Poore, worked for Peterbilt of Bristol, L.L.C. (‘Peterbilt’), which provided health insurance for Poore and his family. In responding to his employer's ‘health insurance questionnaire regarding his family's general medical conditions and medications’, 66 Poore indicated that his wife had been diagnosed with multiple sclerosis. Three days later, despite ‘no complaints about [his] work performance’, Poore was terminated from his position ‘without sufficient explanation’. 67

Poore brought a number of employment discrimination claims against Peterbilt, including one alleging discrimination based on his employer's acquisition of genetic information in violation of GINA. 68 In a brief opinion, the court found that the information at issue—the wife's multiple sclerosis diagnosis—was not ‘genetic information’ with respect to Poore, and therefore it dismissed the GINA discrimination claim. 69

To reach this conclusion, the court turned to GINA's legislative history to glean the ‘basic intent of GINA’. 70 Quoting statements by legislators, it concluded that GINA’s goal was primarily ‘to prohibit employers from making a “ predictive assessment concerning an individual's propensity to get an inheritable genetic disease or disorder based on the occurrence of an inheritable disease or disorder in [a] family member”’. 71 The court acknowledged that Congress included family history in its definition of ‘genetic information’ because it could be used ‘as a surrogate for genetic traits’, and could ‘be viewed to indicate that the individual himself is at an increased risk for that disease’. 72 Nevertheless, it reasoned that information about a disease or disorder in family members is not ‘genetic information’ if ‘such information is taken into account only with respect to the’ the family member with the condition and ‘not as genetic information with respect to any other individual’. 73 In other words, information about Poore's wife's diagnosis with multiple sclerosis had ‘no predictive value with respect to Poore's genetic propensity to acquire the disease’, 74 and presumably was not ‘taken into account’ with respect to Poore's health status. Therefore, according to the court, it did not constitute genetic information.

There is a certain logic to the Poore opinion. That GINA prohibits genetic discrimination based on presymptomatic genetic information as opposed to manifested genetic conditions could be read to suggest that it only prevents discrimination against people based on a propensity for genetic disease. Because a wife's health condition certainly does not predict her husband's genetic risks, it does not seem like genetic information understood in those terms.

Even so, the Poore court notes that GINA defines ‘genetic information’, in part, as ‘the manifestation of a disease or disorder in family members of an individual’. 75 Inexplicably, it does not grapple with this statutory language to consider whether a spouse is a ‘family member’. Nor does it examine GINA’s definition of ‘family member’ as ‘a dependent (as such term is used for purposes of section 1182(f)(2) of title 29 [the Employee Retirement Income Security Act of 1974 (“ERISA”)]) of such individual’. 76 Likewise, it does not discuss the interpretive guidance of the Equal Employment Opportunity Commission (‘EEOC’), which describes a ‘family member’ as a ‘person who is a dependent … as the result of marriage , birth, adoption, or placement for adoption’. 77 In other words, Poore fails to consider who the relevant family members are or what constitutes a dependent under GINA.

There is a strong argument that ‘the definition for “dependent” includes relatives who are not blood-related (e.g., spouse , adopted child)’. 78 The EEOC took such a position in 2010 when promulgating the regulations to implement Title II, despite the fact that groups representing employers had submitted comments opposing the inclusion of such individuals. These groups argued that ‘dependents by adoption or placement for adoption should not be considered family members because genetic information about them would not indicate whether an individual protected by GINA might acquire a disease or disorder’. 79

The EEOC rejected this narrow interpretation of ‘dependent’ because GINA’s ‘explicit reference’ to ERISA, when defining family members as dependents, made it ‘absolutely clear’ that dependents, even if not biologically related, constitute family members under GINA. 80 Furthermore, health information about dependents through adoption or marriage could lead employers to discriminate against an employee based on her dependent's medical condition to avoid ‘potential health care costs’ or ‘increased health insurance rates’, 81 which the EEOC believed GINA intended to prohibit. 82 The health information of spouses would surely pose an equally great risk of such employment discrimination as the health information of non-biological children (through adoption or marriage). Therefore, the EEOC concluded that spouses are dependents. 83

If this interpretation is correct, Poore's wife's multiple sclerosis is a manifestation of a disease in a family member, and therefore it constitutes genetic information under GINA. 84 Instead of engaging with these important semantic and definitional issues, however, the Poore court simply reached its conclusion based on two statements made during floor debates before GINA was passed. It offered no context for the legislators’ assertions that genetic information must be predictive of the employee's health status and failed to assess how they relate to the statutory language Congress ultimately adopted.

Nevertheless, the Poore court set the groundwork for a two-tiered interpretative approach that other courts soon followed: ie a determination of (1) whether a manifested disease or disorder exists in a family member and (2) whether information about a family member's disease or disorder is ‘taken into’ account in determining whether the employee has a propensity for disease. The following year, for example, Allen v Verizon Wireless 85 used similar reasoning to reject Queen Allen's claim for discrimination under Title II of GINA. Allen alleged she had been denied short-term disability benefits based on her family history. 86 In requesting leave to care for her mother under the Family Medical Leave Act, she provided her employer, Verizon Wireless, with her mother's ‘confidential medical information’, 87 which the court never described. She alleged that Verizon considered her mother's medical information, which she asserted was genetic information under GINA, in denying her request for short-term disability benefits. 88

evidence of a family member's disease diagnosis is only considered ‘genetic information’ if used to determine the likelihood of disease in another individual. It is not considered ‘genetic information’ if it ‘is taken into account only with respect to the individual in which such disease or disorder occurs and not as genetic information with respect to any other individual’. 90

Although this discussion was not central to the court's ultimate resolution of the GINA claim, it reiterated the idea established in Poore that information about a family member's diagnosis only sometimes constitutes genetic information. It went a step further than Poore , however, because this time the family member was a blood relative—a mother—as opposed to a non-biological relative, like the spouse in Poore . Although one can find some ambiguity as to whether a spouse is a family member under GINA, 91 an employee's mother unequivocally meets the definition of family member as an ‘individual who is a first-degree … relative of such individual’. 92 In spite of that unambiguous statutory language, Allen advocated, in dictum, Poore's two-tier approach. In other words, a manifested genetic condition of a parent would not qualify for genetic information if it is not used ‘to determine’ the likelihood of disease or is not ‘taken into account’ with respect to the health status of the employee.

Applying a similar interpretive approach, Conner-Goodgame v Wells Fargo Bank, N.A . 93 decided a GINA retaliation claim in favor of the defendant. In that case, the plaintiff, Kaneshia Conner-Goodgame, claimed among other things that her employer discriminated against her in violation of GINA and discharged her in retaliation for having complained about discrimination under GINA. 94 She argued that she informed her supervisor at Wells Fargo Bank that her mother had been diagnosed with and died from AIDs, she claimed her supervisor disclosed that information to her co-workers, in violation of GINA. 95 The court disposed of her GINA claims on two grounds. First, it concluded that information about her mother's AIDS diagnosis ‘does not constitute genetic information about a manifested disease or disorder’. 96 Citing to EEOC interpretations, it reasoned that GINA does not protect against discrimination on the ‘basis of impairments that have a genetic basis’ (ie manifested genetic conditions), but instead focuses on protecting against discrimination because an employer thinks its employee is ‘at increased risk of acquiring a genetic condition’. 97 Furthermore, it pointed out that HIV tests are not genetic tests and therefore the determination of her mother's AIDS status based on such tests ‘could not be considered genetic information’. 98

This analysis misunderstands several aspects of GINA. That GINA does not protect against impairments with a genetic basis is true, but irrelevant. The plaintiff was not claiming that the genetic information at issue was the manifestation of a genetic condition in herself, which clearly would not be protected under GINA. 99 Instead, her claim was that information about the AIDS diagnosis of her mother was genetic information. While the court is correct that GINA protects against discrimination based on presymptomatic genetic risks, one of the ways it does that is by including information about ‘the manifestation of a disease or disorder in family members’. 100 That her mother's diagnosis was based on HIV testing, which is not a genetic test, is also irrelevant. She was not suggesting that her mother's condition was diagnosed based on a genetic test. She merely claimed that she disclosed information about her mother's ‘manifestation of a disease or disorder’.

Second, the Conner-Goodgame court rejected the plaintiff's assertion that her employer's ‘disclosure of non-genetic information concerning [her] family member's disease or disorder’ could be a basis for liability under GINA in this case. It found ‘no support’ for interpreting genetic information ‘so strictly’. 101 The court observed that the plaintiff ‘had no chance of acquiring HIV in the future as a result of her deceased mother's AIDS’, and therefore the family history provided no predictive information with regard to the employee. It also struggled with the notion that GINA protects non-genetic information concerning a family member, but not non-genetic information concerning a plaintiff herself. In essence, it feared the plaintiff's assertion that her mother's AIDS diagnosis was protected genetic information would ‘give more protection’ to the family member's information than to ‘the actual employee's information’. 102

Again, as in Poore , there is a certain logic to the court's reasoning if one focuses on GINA’s distinctions between presymptomatic genetic information and manifested genetic disease. Because infectious diseases are not generally heritable, it is unlikely that an employee's mother's AIDS diagnosis decades earlier poses a risk of future disease in the employee. Like the Poore court, however, the Conner-Goodgame court erred in ignoring GINA’s plain language. In defining genetic information in part as ‘the manifestation of a disease or disorder in family members’, GINA did not distinguish between non-genetic and genetic disease in family members. The AIDS diagnosis in Conner-Goodgame's mother, therefore, unambiguously fits within this definition of ‘genetic information’.

The Poore two-tier approach to construing genetic information in terms of its predictive value continued in Maxwell v Verde Valley Ambulance Co., Inc . 103 In that case, plaintiff Matthew Maxwell alleged that his employer, Verde Valley Ambulance Co. (‘VVAC’), required him, in violation of GINA, to ‘disclose “genetic information” in his family medical history’. Maxwell had told his supervisor that he was disabled due to a leg injury sustained prior to his employment. As a result, his employer requested he receive a medical evaluation to determine whether he ‘was qualified’ to perform his employment duties. 104 When his supervisor requested a copy of the physician's letter, she also received the health and occupational history form that Maxwell completed, which indicated that his grandfather had had cancer. 105 Maxwell alleged that VVAC violated GINA by ‘requesting, requiring, or purchasing genetic information’. 106

A key issue in addressing the claim was whether the plaintiff's family medical history concerning his grandfather's cancer was ‘genetic information’ under GINA. Quoting Poore and its reliance on legislative history, the Maxwell court emphasized that GINA's purpose is to prevent discrimination based on a ‘ predictive ass essment concerning an individual's propensity to get an inheritable genetic disease or disorder based on the occurrence of an inheritable disease or disorder in [a] family member’. 107 Like Poore , it concluded that a family member's medical diagnosis does not constitute ‘genetic information’ under GINA if ‘such information is taken into account only with respect to’ the affected family member and ‘not as genetic information with respect to any other individual’. 108 Finding no evidence to suggest that Maxwell's grandfather's history of cancer ‘was “taken account” with respect to Plaintiff’, the court found a question of fact as to whether the information at issue was ‘genetic information’. Accordingly, it denied both parties’ motions for summary judgement. 109 Although the court left open the possibility that additional evidence could potentially support a conclusion that it was genetic information, it worried about the implication in the plaintiff's argument that an employer could face ‘strict liability’ any time it ‘receives information about an employee's family medical history’. 110

The reasoning of the Maxwell court, in particular its unwillingness to conclude that the family history was ‘genetic information’ as a matter of law, is troubling in a few additional respects. First, as noted earlier, nothing in GINA suggests that the definition of genetic information depends on whether the manifested disease or disorder in an employee's family member is predictive with respect to whether the employee is at risk for a genetic disease. The statute states unambiguously that a manifested disease in a family member constitutes genetic information.

Second, even if the definition of ‘genetic information’ required family medical history to be predictive of an employee's future health risks, Maxwell is a case in which the family history was potentially predictive. Cancer has both genetic and environmental components. Its diagnosis in an employee's relative therefore has potential predictive value in assessing future health risks in the employee. Whereas an employee's wife's diagnosis with multiple sclerosis and an employee's mother's AIDS diagnosis are not indicative of the employees’ future health risks, information about cancer in an employee's second-degree relative has potential predictive value about his propensity for cancer. It would seem, therefore, that such a family history should be genetic information as a matter of law: it both fulfills the definition and is consistent with the spirit of GINA.

Two recently decided cases also rely on the Poore methodology to assess whether family history constitutes genetic information. Although the information at issue in these cases does not constitute genetic information under even a broad construction, the cases' reliance on Poore is instructive. In Carolina Rebecca Green v Whataburger , 111 Ms. Green alleged a discrimination and retaliation claim under GINA based on information about her daughter's medical history, specifically the fact that her daughter needed surgery ‘due to the possibility of cancer’. 112 The court correctly concluded that this information did not constitute ‘the manifestation of a disease or disorder in family members’ because her daughter had not yet been diagnosed with a condition. 113 Nevertheless, the court's dictum suggested that to determine whether a family history is genetic information under GINA requires more than the fact that a family member has a manifested disease or disorder.

The court quoted the, by now, familiar language from Poore that the ‘purpose of the family medical history provision’ in defining genetic information is ‘to prohibit employers from making a predictive assessment concerning an [employee's] propensity to get an inheritable genetic disease or disorder based on the occurrence of an inheritable disease or disorder in a [a] family member’. 114 In so doing, it suggested that even if there was evidence of a manifested disease in the daughter, the court would have to determine whether such information was ‘taken into account’ only with respect to the daughter and ‘not as genetic information with respect to any other individual’. 115 Thus, it seemed to accept the two-tier analysis of Poore : (1) is there a manifested disease in a family member? and (2) is it taken into account to provide ‘predictive value’ with respect to the employee? The court was correct in concluding that the first-tier was not met (because Green's daughter had not been diagnosed with cancer). But the court erred in suggesting that a second analytic step would have been required, had a family history been established, to show that the family history was predictive in order to be considered ‘genetic information’.

Finally, in Gibson v Wayfair , 116 Toya Gibson brought a GINA claim alleging that Wayfair had terminated her employment based on information about her father's stroke and her mother's ‘unspecified mental illness’. 117 Again, in dictum , the court cited precisely the same language from Poore that Whataburger and the other cases described in this section used. 118 It did not ultimately apply the two-tier analysis of Poore , however, because Gibson had not exhausted the administrative remedies with respect to the claims concerning her father's stroke 119 and because there was ‘no evidence that her mother was diagnosed with a specific mental disease or disorder’. 120 Thus, although the ultimate disposition was correct, the court's endorsement of Poore's narrow understanding as to when family history constitutes ‘genetic information’ under GINA is problematic.

II.B. Broad Construction of ‘Genetic Information’

While Poore and its progeny construe ‘genetic information’ narrowly, in terms of whether it was ‘taken into account’ for its predictive value, another line of cases interprets the definition quite differently. They simply examine whether the information in question falls within the definitional language of GINA. For example, in Jackson v Regal Beloit America , 121 the court easily concluded that under ‘the plain language of GINA’, Regal Beloit America (‘Regal’) had unlawfully requested genetic information from Shelia Jackson when the physician who performed an employment-related medical examination requested medical records that ‘contained protected “genetic information” in the form of her family history’. 122 Unlike Poore and its progeny, the court did not suggest that another level of inquiry was required to assess whether the family history was ‘taken into account’ with respect to the employee's propensity for disease. Not only did the court find a GINA violation for an ‘unlawful request’ for genetic information, 123 it also found that the plaintiff had established a retaliation claim under GINA. Jackson demonstrated that Regal's displacement and termination of her immediately followed her refusal to turn over requested medical records containing ‘protected genetic information’, and Regal offered no ‘legitimate rationale’ for its adverse employment decisions. 124

Similarly, in Thomas Montgomery et al. v Union Pacific Railroad , 125 the employer requested medical records ‘without a warning not to disclose genetic information’. 126 Although the court considered the plaintiff's GINA claim to be ‘very weak’, it was unwilling to grant the employer summary judgement with respect to the plaintiff's claim that his employer had unlawfully requested genetic information by requesting medical records ‘without instructions to redact family history’. 127 The implication, again, was that family history alone, without consideration of whether the employer ‘took it into account’ with respect to the employee's propensity for disease, constituted genetic information.

In other cases that also construe genetic information broadly, the facts might have yielded the same results even under the narrower interpretive approach of Poore et al . These cases are nevertheless instructive because they avoid Poore's two-tier analysis and focus only on GINA's simple definition. For example, in Punt v Kelly Services , 128 employee Kristin Punt alleged that she was terminated from her employment based on her family history of cancer in violation of GINA. She had shared information with co-workers that her ‘mother, grandmother, great-grandmother, cousin, and aunt were all diagnosed with breast cancer’. 129 The court readily concluded that such information ‘is the type of genetic information implicated by GINA’, not specifically because it suggested predictive potential, but because it met the statutory definition of ‘the manifestation of a disease or disorder in family members’. 130

In spite of this more expansive understanding of GINA, however, Punt did not succeed because she failed to allege ‘sufficient evidence’ that her termination was based on her genetic information. 131 While she faced the same challenge in establishing discriminatory intent that many plaintiffs face in bringing employment discrimination claims, 132 she was not thwarted by a court's unwillingness to apply the plain language of GINA in establishing that the information at issue was genetic information.

Lee v City of Moraine Fire Dept. 133 similarly concluded that an employee's family history constitutes genetic information. In that case, David Lee's employer, Moraine Fire Department updated its requirements for health and wellness physicals. As part of the revised process, Lee completed a questionnaire, which asked about family history of heart disease. 134 Lee brought claims under GINA alleging that his employer had ‘unlawfully requested [his] genetic information and family history’. 135 The court easily granted his motion for summary judgement on this basis. It found that information about a family history of heart disease meets one of the statutory definitions of ‘genetic information’. 136 In addition, it concluded that the question on the health form—‘Is there a family history of heart disease in your parents and siblings?’—violated GINA’s prohibition of requests for genetic information. 137 Like the Punt court, the Lee court could have interpreted the information at issue to be genetic information under the more narrow, Poore analytic approach. But more importantly it merely examined whether the information met the statutory definition. It did not examine whether the information about family history was ‘taken into account’ with respect to the propensity of disease in the plaintiff.

Similarly, the court in EEOC v Grisham Farm Products, Inc. 138 had little difficulty concluding that information about the health of family members constitutes genetic information. In that case, the requests for information about family history were more indirect. Defendant Grisham Farm Products, Inc. required job applicants to fill out a ‘three-page “Health History”’ form. One of the questions asked whether applicant Phillip Sullivan had ‘“consulted” a healthcare provider “within the past 24 months”’ 139 and whether ‘future … diagnostic testing … [has] been recommended or discussed’. 140 Although the questionnaire did not directly ask about the health of family members, the court reasoned that Sullivan's responses would reveal ‘family history or risk factors’ 141 if Sullivan indicated that, despite having no manifestations of a medical condition, he had consulted with a physician, or a health care provider had recommended diagnostic testing. In other words, even indirect queries about health status that could lead to medical information about family members (or risk factors) constitute a violation of GINA’s prohibition of requests for genetic information. 142 As a result, the court awarded damages to Sullivan. 143

Lowe v Atlas Logistics Group Retail Services (Atlanta), L.L.C ., 144 the last in the line of cases broadly construing genetic information, is quite different, factually speaking, from the other cases. It is also the most notorious, described in the press as the ‘devious defecator’ case. 145 The case originated with a ‘mystery employee’ who ‘habitually’ defecated in one of the warehouses of Atlas Logistics Group Retail Services (‘Atlas’). 146 In an attempt to identify the offender, Atlas requested that some of its employees, including plaintiffs Jack Lowe and Dennis Reynolds, submit to a cheek swab for forensic DNA analysis to compare their DNA with that of the ‘offending fecal matter’. Neither was found to be a match. 147 Both, however, filed charges of discrimination with the EEOC alleging that their employer had violated GINA in requesting and requiring them to provide, and in disclosing, their genetic information. 148 While the EEOC dismissed the charges, the federal district court found that Atlas had violated GINA.

The case turned on whether ‘genetic information’ applied to the results of the forensic DNA analysis of Lowe and Reynolds. This method of identification determines genetic variants in non-coding regions of the DNA, but does not determine propensity for disease. 149 Focusing initially on the text of the statute, the court concluded that ‘the unambiguous language of GINA covered Atlas’ requests for Lowe's and Reynolds’ genetic information’. 150 The definition of genetic information includes, in part, information about an ‘individual's genetic tests’, 151 which are defined as analyses of ‘human DNA, RNA, chromosomes, proteins, or metabolites, that detects genotypes, mutations or chromosomal changes’. 152 Since the forensic analysis of the employee's DNA detected ‘genotypes and mutations’, it met the definition of a genetic test and therefore the results were genetic information under GINA. 153

Atlas argued, however, that the spirit and legislative history of GINA required the definition of genetic tests to be limited to those ‘related to one's propensity for disease’. 154 It pointed to GINA’s goal of preventing the misuse of genetic information and, like Poore et al ., quoted legislators expressing the view that the ‘intent of GINA was to be limited to combating discrimination based on one's propensity for disease’. 155 It also quoted the same language upon which the Poore court relied: that GINA prohibits discrimination based on a ‘ predictiv e assessment concerning an individual's propensity to get an inheritable genetic disease or disorder based on the occurrence of an inheritable disease or disorder in [a] family member’. 156

The Lowe court was not persuaded by Atlas’ defense. First, it reasoned that Atlas’ understanding of genetic testing and information would ‘render[] other language in GINA superfluous’. 157 For example, Congress explicitly excluded from the definition of ‘genetic test’ certain types of genetic analysis that do not establish disease propensity, such as ‘DNA analysis … for purposes of human remains identification’ and ‘analysis of DNA identification markers for quality control to detect sample contamination’. 158 Such language, the court reasoned, would be ‘unnecessary’, if Atlas were right that any DNA analysis that did not identify disease propensity fell outside the purview of GINA. 159

Second, it noted that legislative statements demonstrating instances in which GINA could protect people identified to be at an increased risk of diseases were not ‘exhaustive’ examples. 160 More important, the court noted, the statements (that Poore et al . rely upon) suggesting that GINA was limited to information demonstrating disease propensity expressed the views of only ‘a handful of legislators’ and did not reflect the view of Congress. 161 Instead, these statements were attempts to persuade fellow legislators that GINA’s definition of ‘genetic information’ was too broad and should be narrowed. 162 As the Lowe court observed, their efforts failed and as did other efforts to narrow the definition. 163

The court also noted that the EEOC regulations use the same language as GINA. Moreover, not all of its examples of genetic information include information that indicates a propensity for disease. The regulations state, for example, that information from ‘DNA testing to detect genetic markers associated with information about ancestry’ or ‘DNA testing that reveals family relationships such as paternity’ constitutes ‘genetic information’. Furthermore, the kinds of genetic tests that are not protected under GINA, according to the regulations, do not include the genetic forensic analysis used by Atlas. 164 For all of these reasons, the court followed the ‘plain meaning of the statute's text’ and determined that Atlas had violated GINA in requesting DNA forensic analysis of its employees. 165

As Part II has shown, the courts have followed two very different approaches in interpreting genetic information. The Poore approach tries to narrow the definition so that ‘genetic information’ is understood only in terms of its predictive value. In contrast, courts like Lowe and Punt follow the plain language of the statute to construe genetic information broadly, even in instances where the information may not necessarily indicate a propensity for disease.

III.A. Why Courts Should Adopt the Broad Construction of ‘Genetic Information’

As the Lowe court notes, the presumption should be to follow the plain meaning of the statute. 166 Where statutory language is unambiguous, the words chosen by the legislature are ‘the most reliable source of legislative intent’ 167 and there is no reason to probe further to construe the meaning of the terms. 168 In other words, courts should generally ‘look to other interpretive tools, including the legislative history’ only when there is ambiguity in the text. 169 For the most part, GINA’s language defining genetic information and genetic test is ‘plain and admits of no more than one meaning’. 170 Under this interpretive approach therefore, the text alone should be sufficient to construe the meaning of ‘genetic information’.

Even in Poore , where there was potential ambiguity as to whether the term ‘family member’ applies to spouses, the court never considered whether this aspect of the definition was ambiguous generally or as applied to that case. Similarly, the other courts that relied on legislative intent to narrow their understanding of genetic information never discussed whether the statutory language was ambiguous. Nor did they offer any other rationale to justify an interpretation that goes against the plain meaning of GINA's definition of genetic information. Although these cases did not discuss their methodology, their approach hints at a view that the ‘meaning—or ambiguity—of certain words or phrases may only become evident when placed in context’. 171 As the Supreme Court noted in King v Burwell , ‘when deciding whether the [statutory] language is plain’, courts ‘must read the words “in their context and with a view to their place in the overall statutory scheme”’. 172 When one considers both that Congress intended to draft a broad definition and that it is impossible to draw tidy lines between genetic and non-genetic information, the definition read in context argues in favor of the broad construction.

Even if an examination of legislative intent were necessary to determine the full meaning of ‘genetic information’ in these GINA cases, the legislative history and purpose of GINA support the broader construction. As the Lowe court noted, the fact that legislators cited examples of genetic information indicating a propensity for disease does not mean that ‘genetic information’ includes only such information. Moreover, there is scant support in the legislative history for the view that family history is genetic information only if it is predictive of an employee's future health. After all, such a view comes from the testimony of ‘only a handful of’ legislators who lost the battle over the breadth of the definition of ‘genetic information’. 173

Further, the broad goal of GINA was ‘to fully protect the public from and allay concerns about discrimination’. 174 As part of that effort, Congress expressly chose a definition of genetic information that is among the broadest of those used in genetics legislation. Not only did it use family history, which many state legislatures explicitly excluded from the definition, it included family members who were not genetically related. In addition, it did not define family history in terms of ‘ inheritable ’ manifested diseases of disorders in family members. While Congress could easily have narrowed its definition to include only family history that is expressly predictive of future health risks, it did not do so, in spite of some legislators' concerns about adopting too broad a definition. It seems clear from the ultimate definition that Congress adopted, even in the face of these criticisms, that its goal was to protect genetic information expansively.

The EEOC’s drafting of the final rule and response to comments offers some insights as to why Congress may have defined ‘genetic information’ broadly and failed to limit the definition to information about predictive risks. Although concerns about discrimination based on future health risks were the impetus for GINA, the EEOC did not modify its definition of family history in the ways suggested by Poore and progeny. Indeed, in drafting the Final Rule, it rejected requests from some employer groups to narrow the regulation's definition of ‘family medical history’ to include only modified diseases or disorders in family members that were ‘inheritable’ for a few reasons. 175 First, the EEOC wanted the language of the regulation to be ‘consistent with the plain language of the statute, which also does not include the word “inheritable”’. In addition, given how rapidly the field of genetics is developing, the EEOC was concerned about the ‘significant compliance and enforcement problems’ for covered entities or EEOC investigators in determining whether a disease or disorder in family members is ‘“inheritable” or has a genetic basis’. 176

The facts in Maxwell , involving a grandparent with cancer, illustrate this difficulty, given that cancer can but does not always have a strong genetic component. 177 How would a covered entity or EEOC investigator determine whether this particular instance of cancer is inheritable or has a genetic basis? It is likely that Congress recognized such concerns and opted for a bright-line rule that would cover all predispositions to genetic disease, even if, in some instances it might be overly broad. Attempting to modify family history as ‘inheritable’ manifested disease or disorder in family members would have presented interpretation problems. It would also have risked the possibility of too narrow an understanding of genetic information and the possibility that some information that might be predictive of future health risk would be incorrectly deemed not to constitute relevant family history. Given the impossibility of a definition that maps perfectly onto propensity for health risk, Congress seemed quite clearly to prefer a definition that was overly broad to one that was overly narrow. Thus, the statutory language, GINA’s goal to ensure broad protection, and the implementing regulations all suggest that the understanding of family history as defined under GINA should not be restricted in the way that Poore, Allen, Connor-Goodgame, Maxwell, Carolina Rebecca Green , and Gibson suggest.

Not only is the Poore interpretation inconsistent with the goals of Congress and GINA’s unambiguous statutory language, it also presents another and more subtle difficulty in its understanding of the meaning of family history. Even if one were to accept the view that genetic information is (or should be) limited to information predictive of future health risks in an employee, Poore ' s two-tier test to determine whether family history is genetic information requires a showing that a manifested disease or disorder in a family member is ‘ taken into account ’ not only with respect to the family member and but also with respect to the health risks of the employee. 178 This language suggests not only that the health status of the family members must reveal a propensity of disease in the employee but also that it must be understood as such, ie ‘taken into account’ with respect to the employee.

The Poore lineage does not explicitly describe who must take it into account, but the reasoning of these cases suggests it must be the covered entity. The Poore court explains, for example, that GINA used family history to define ‘genetic information’ because employers could ‘potentially use [it] “as a surrogate for genetic traits”’. It makes this statement right before it discusses the need for the family history to be ‘taken into account’ with respect to the employee, implying it is the employer who must perceive the information in that light. 179 The passive voice hides the actor, but who else could the court have imagined would interpret the information other than the employer? Under this view, therefore, the test of the predictive value of the health status of family members does not depend on whether the information objectively demonstrates a propensity for disease in the employee, but on whether the covered entity perceives this family medical history as genetic or heritable; whether it ‘takes into account’ the relative's health status in predicting a future health risk for the employee.

Under the facts of Poore and Conner-Goodgame , there may not be much distinction between an objective assessment of and the employer's view about the predictive value of a family member's health status. One could argue coherently under the facts of Poore and Conner-Goodgame that the family history—an employee's spouse's diagnosis with multiple sclerosis and an employee's mother's diagnosis with AIDs—reveals nothing about the propensity of disease in the employees under any objective assessment. Similarly, in both cases the employers did not (and one would not expect them to) interpret the family history as suggesting a propensity for disease.

In the Maxwell case, however, it is hard to make such an argument. One cannot claim definitively that cancer in a second-degree relative has no predictive value, objectively speaking. A family history of cancer might well have some such value, although without more information it is unclear how predictive it is. Even so, the employer might not ‘take into account’ the employee's grandfather's cancer with respect to the employee's health, even if it should have. 180 Or the employer might assert that it has not done so, even if it has, a point that would be hard to disprove.

To make the distinction more concrete, imagine that an employee's relative had cancer, but an employer claims that it did not ‘take into account’ that information with respect to the employee's future health. If, in fact the relative's cancer had a genetic basis and therefore it was inheritable, this would be genetic information under an objective assessment because the family history would reveal a propensity for disease in an employee. But if the definition depends on the employer's perception of the relevance of this information to the employee's health, it would not be genetic information. Similarly, if the employer wrongfully claimed it had not taken the information into account and the employee could not prove otherwise, it also would not be genetic information under this test. Defining genetic information in terms of the employer's understanding and interpretation of the information essentially narrows the definition too much. Even if the family history is predictive, it will not be genetic information if the employer does not (or persuasively claims not to) perceive it as such.

Defining genetic information in this manner therefore depends on the employer's state of mind, which is problematic for a few reasons. First, absolutely nothing in GINA or the EEOC regulations suggests that Congress intended genetic information to depend on the employer's understanding of the information. Worse, it substantially weakens one of the benefits of the privacy protections of GINA, which, as Jessica Roberts has noted, bolster the anti-discrimination prohibitions. 181 GINA is ‘not a typical antidiscrimination statute’. Unlike the vast majority of federal antidiscrimination laws, which prohibit discriminatory actions, but do not prohibit covered entities from ‘seeking—or even disclosing—information related to other kinds of protected statuses’, GINA restricts employers from acquiring (‘requesting, requiring, or purchasing’) genetic information. 182 As she notes, this privacy provision helps combat discrimination by making ‘intent … irrelevant’. 183 Whereas employment discrimination claims generally require the challenging task of proving an employer's discriminatory intent—ie that the employment decision was based on the protected status 184 —GINA provides an avenue for relief under the ‘privacy’ provision that should not depend on establishing the employer's state of mind. 185

The Poore lineage of cases limits this protection by requiring the employee to show not only that there is a family history, but also that the employer construes the family history as genetic information by ‘taking it into account’ with respect to the employee's health risks. 186 If this understanding of genetic information is correct, it requires plaintiffs to establish their employers’ mindsets not only with respect to whether employment decisions were based on protected information, but also whether the information at issue is even protected under GINA.

Had Congress wanted to define ‘genetic information’ in terms of the employer's perceptions it easily could have. After all, it defined disability under the ADA, in part, in terms of perceptions. Specifically, in drafting that antidiscrimination legislation, Congress adopted a definition of disability that includes objective information—whether one has had an ‘impairment that substantially limits one or more major life activities’—as well as information related to perceptions—whether one has a ‘record of such an impairment’, or whether one is ‘regarded as having such an impairment’. 187 GINA, in contrast, does not define ‘genetic information’ in terms of the employer's or anyone else's perceptions. None of the various definitions of genetic information discuss or refer to how the information is understood or ‘taken into account’ by the employer or anyone else.

III.B. The Impossibility of Defining ‘Genetic Information’ Precisely

What the two judicial approaches to interpreting GINA reveal is not just different methodologies of statutory interpretation. They also underscore the impossible task of defining genetic information so that it protects precisely the kind of information legislators had in mind when drafting genetic antidiscrimination laws. These struggles arise because of the ‘scientifically dubious dichotomy between genetic and non-genetic information’. 188 Any definition attempting to distinguish the two will inevitably suffer from over- and/or underinclusiveness because the line between genetic and non-genetic medical information is incredibly blurry. Medical information lies on a spectrum with respect to the degree that genes and environment play a role in the development of disease. Even illnesses that lie on either end of the spectrum, such as phenylketonuria (‘PKU’), an inherited condition, and AIDS, a disease caused by infection with HIV, are not purely genetically or environmentally based. Although PKU is a classic genetic disease, environmental factors such as the presence or absence of the amino acid phenylalanine in one's diet can determine whether the symptoms of PKU develop. Conversely, some genetic factors can influence whether HIV infection will lead to AIDS. 189

While genetic antidiscrimination laws aim to protect against discrimination based on presymptomatic genetic information, efforts to draft such legislation present difficult choices about how to define ‘genetic information’. Should the definition be narrow so it does not protect against uses of ‘non-genetic information’ or should it be broader so it does not leave out information that reveals a propensity for future illness. Defining ‘genetic information’ as the result of a genetic test—analysis of RNA and DNA, for example—is one way of avoiding overinclusiveness because it would not include information about a spouse's medical condition or a parent's infectious disease. But even this definition can be overbroad by including information that does not address propensity for disease, as happened in Lowe .

Moreover, that approach is generally underinclusive; after all, before GINA was enacted, employers were far more likely to ask questions about an employee's family history than subject employees to forensic DNA analysis. Defining ‘genetic information’ in terms of genetic test results would not include information about genetic disease in an employee's family member, even if it demonstrated a higher risk of genetic disease in the employee. If an employee's father has Huntington's disease, the employee faces a 50% risk of developing Huntington's. 190 And if her mother has heritable breast cancer, her risk of inheriting the gene is 50%, which would subject her to a life-time increased risk of breast or ovarian cancer. 191 Congress, therefore, opted for a broader definition that included family history, whether or not it was based on ‘inheritable’ disease.

The problem, as Poore and Conner-Goodgame demonstrate, however, is that Congress’ definition is sometimes overly inclusive. Not all family history—such as a wife's illness or a mother's infectious disease—is indicative of a genetic risk. If Congress had narrowed the definition to include only family history where the manifested disease in relatives is inheritable or has a genetic basis, that definition would be problematic in different ways. While it might be more precise and consistent with GINA’s goal of protecting against presymptomatic genetic discrimination, it requires lines to be drawn between diseases in family members that are inheritable and not heritable. In other words, it simply moves the line-drawing problem between genetic and non-genetic information from the employee's health status to that of the employee's relatives. How is such a line to be drawn if we do not fully understand the extent of the role of genetics with respect to the majority of diseases? And, even if science could discern the extent of heritability for all diseases, how heritable must something be to fit within the definition?

Furthermore, this approach essentially leaves the line drawing to employers and ultimately EEOC investigators to determine whether employers have violated GINA. If the test is objective heritability of disease in relatives, employers hardly have the expertise to discern whether the medical condition is genetic or not. EEOC investigators may not be much better equipped. If we go a step further and follow the Poore approach, which requires evidence that the employer viewed the manifested disease in the family member as inheritable before it can be considered ‘genetic information’, that is highly problematic for employees. Employers have too many incentives to ‘perceive’ health status in a family member as irrelevant to the future health of the employee so they can limit their liability under GINA. What stops the employer from alleging it did not consider family history in assessing an employee's health risks, even if it actually did? And how would an employee be able to establish the true mindset of the employer with respect to this information to determine whether the employer (correctly or incorrectly) viewed it as predictive with respect to the future health of the employee?

These problems therefore argue for treating family history as genetic information, whether or not it can be demonstrated that a relative's manifested condition is inheritable. Although such a bright-line rule is overinclusive in certain instances, it avoids the impossible task of distinguishing between genetic and non-genetic disease in family members and it fully protects against discrimination based on presymptomatic genetic risks.

III.C. The Problem of Genetic-Specific Legislation

Given the inevitable over- and underinclusiveness of any definition of ‘genetic information’, no definition will make everyone happy. But that is the price of any genetics-specific legislation and the problematic conceptual exercise of trying to distinguish genetic information from other medical information. These semantic and definitional challenges, however, also raise substantive issues about the propriety of attempting to grant genetic information special treatment and protection in the first place. 192

Perhaps there is something about presymptomatic genetic information that is truly different from other medical information, although as I describe in great detail in earlier work, I am skeptical. Certainly there are aspects of some (but not all) genetic information that warrant its protection—its predictive capacity, its hidden nature, its being out of our control, etc. 193 But other kinds of medical information raise precisely those issues—non-genetic tests can predict health risks; epigenetic changes can be hidden and predict propensity for disease; and many non-genetic factors, including many environmental stimulants or even epigenetic changes, are outside our control. 194 Moreover, if the concern is the immutability of genetic inheritance and the fact that our inheritance is outside of our control, how can we justify treating those with manifested genetic diseases differently from those who are merely at risk of genetic disease? 195 Even so, GINA and other genetics legislation draw such a line.

GINA’s unique treatment of medical information raises more than problematic semantic challenges. It also presents practical problems of implementation and troubling inconsistent protections for similar kinds of information. With respect to the first problem, it is difficult for employers to comply with some of GINA’s provisions. Although the ADA allows employers to seek the release of medical records of individuals to whom they have made a conditional offer of employment, 196 GINA limits this right by prohibiting the acquisition of genetic information. Mark Rothstein argues, however, that complying with this provision is ‘infeasible’. Genetic information (whether one adopts the narrow or broad interpretation of this term) exists throughout the medical record, making it difficult or even impossible for health care providers to send medical records to employers devoid of any genetic information. 197

This difficulty implementing the GINA privacy protections reflects the fact that GINA provides a level of privacy protection with respect to genetic information that does not exist for health information under the ADA. In addition to prohibiting employers from discriminating based on genetic information, GINA prohibits them from acquiring genetic information, with some exceptions. 198 The ADA, in contrast, allows employers to access health records or require preemployment exams once a conditional offer of employment is made. 199 Although the ADA prohibits employers from discriminating on the basis of information about an employee's disability, employees may have difficulty determining or establishing whether employment decisions were made on that basis. GINA tries to limit this problem of proving discriminatory mindset by preventing employers from accessing genetic information in the first place. Why should genetic information be accorded such protection but not non-genetic medical information or information about manifested conditions (including genetic conditions)?

We should be especially troubled by this distinction because the temptation for employers to use information about a manifested condition would be just as great, if not greater than, the temptation to use information about a risk of a future illness that may not develop for years, or ever. The way that GINA treats family medical history only underscores this concern. To be sure, the biggest reason to include family medical history in the definition of ‘genetic information’ was to prevent employers from using indirect evidence to discern an employee's genetic risks. But, as discussed earlier, another rationale to include medical information about family members (even if related through marriage or adoption) in the definition is because of concerns that employers might discriminate based on the potential health care costs associated with the family member's illness. If those worries justify protection of information about family medical information, including information that does not in any way reveal the propensity of disease in the employee, it is not clear why an employee's presymptomatic genetic information, but not information about an employee's manifested condition, deserves privacy protection.

If one of GINA’s concerns was preventing employers from denying employment to someone because his wife's multiple sclerosis may impose burdensome health care costs, shouldn’t we also be concerned about employers denying employment to someone because of potential health care costs associated with a manifested condition, genetic or otherwise, in that individual ? That the ADA prohibits such discrimination if the condition constitutes a disability under the statute is an inadequate response. As noted above, because the ADA does not establish the same kind of privacy protection for health information that GINA provides for genetic information, 200 it can be hard for plaintiffs to establish whether the prohibited discrimination under the ADA has occurred. Perhaps this problem could be avoided, and the implementation challenges of keeping genetic information out of medical records could be resolved, by more broadly limiting employer access to medical information post conditional offer, ie by treating all medical information more like genetic information. 201

On the other hand, there may be reasons to consider whether the privacy protections of GINA should be less absolute. GINA demands a ‘genome blind’ world where employers may never use genetic information for employment decisions. 202 The ADA, in contrast, treats health information quite differently. Employers may use health information for certain employment decisions, such as providing reasonable accommodation for otherwise qualified individuals with disabilities. 203 The ADA is but one example of antisubordination approaches where employers can use information about employees to remedy or prevent discrimination and its affects. 204

That GINA treats genetic information in such a manner is not in and of itself problematic. This unique treatment of information related to the protected status may, however, limit the potential of GINA to advance some of its underlying goals. Imagine the scenario that Jessica Roberts describes, where an employee has a genetic predisposition to carpal tunnel syndrome. 205 If employers could use this genetic information to provide reasonable accommodations, in the way they can for individuals with disabilities under the ADA, for example, the employee's chance of actually developing the condition might decrease. 206 This outcome would be consistent with GINA’s goal of encouraging genetic testing so that people can improve their health. By treating genetic information differently from the way other antidiscrimination statutes treat information related to other protected groups, GINA might, to some extent, undermine its goal of encouraging the public to obtain the maximum benefits of genetic testing and related technologies.

As we have seen, GINA, like most legislation, is an imperfect statute. It represents compromises and trade-offs that arise when the underlying motivations are as varied and complex as the many actors who pushed for its enactment for 13 years. In addition, it most definitely did not solve the underlying problem of all genetics legislation; it did not provide a fully precise definition of the information it sought to protect. That it did not do so is not a function of Congressional incompetence or failure to understand the problem, but a failure of the mission itself—to try to distinguish what is ultimately incapable of precise distinction. Medical information is almost always genetic information to some extent; it is simply a question of the degree to which genetics plays a role. Trying to precisely carve out ‘genetic information’ definitionally is therefore an exercise doomed to inadequacy, if not failure.

But we exist in an imperfect world, where compromises and decisions must be made in the attempt to achieve certain objectives. We have special protections for genetic information, which reflect policy concerns, political motivations, and pragmatic goals. Whether GINA was actually necessary to prevent potential future genetic discrimination is hard to determine. Whether it has achieved its practical goal of decreasing the public's fear of discrimination in order to motivate people to pursue genetic testing in clinical care and genomics research is even more uncertain. 207 But this is the legislation we have, for better or worse.

Attempts by courts to narrow GINA’s scope ignore the compromises Congress made in defining ‘genetic information’ as well as the clear statutory language and broader policy goals of GINA. To the extent that it is problematic to carve out special protections for genetic information, the broader definition that GINA uses is preferable to a narrow definition because it moves us slightly closer toward treating genetic information like other medical information. This construction of ‘genetic information’, of course, is not a panacea. Nevertheless, courts must stop reliving the battle over the definition of ‘genetic information’. The broad definition prevailed. It is time for courts to recognize this in their application of GINA so that at least one of this statute's goals can be achieved—uniform protections with respect to genetic information.

Pub. L. No. 110–233, 122 Stat. 881 (2008) (codified in scattered sections of 26, 29, and 42 U.S.C.).

Jessica L. Roberts, The Genetic Information Nondiscrimination Act as an Antidiscrimination Law , 86 Notre Dame L. Rev. 597, 599 (2011) [hereinafter Roberts, GINA ].

Meredith Wadman, Banning Genetic Discrimination , N  ature , Apr. 25, 2008, https://www.nature.com/news/2008/080425/full/news.2008.780.html (last visited Feb. 17, 2019).

Legislative History of GINA , N  at'l H  uman G  enome R  esearch I  nst . (Apr. 17, 2017), https://www.genome.gov/27568535/legislative-history-of-gina/ (last visited Dec. 11, 2018).

154 C  ong . R  ec . E784-03 (daily ed. Apr. 30, 2008) (statement of Rep. Lee), 154 Cong. Rec. E784-03, at *1901654 (Westlaw).

Pub. L. No. 110–233, § 2(1) (noting that scientific advances in human genetics ‘give rise to the potential misuse of genetic information to discriminate in health insurance and employment’).

Bradley A. Areheart, GINA, Privacy, and Antisubordination , 46 Ga. L. Rev . 705, 707 (2012) (describing GINA as ‘more forward-looking and less responsive to serious social harms’ because ‘only a few cases of genetic discrimination have been documented’); Roberts, GINA, supra note 2, at 600.

Jessica L. Roberts, Preempting Discrimination: Lessons from the Genetic Information Nondiscrimination Act , 63 Vand. L. Rev . 439, 457–59, 461–62 (2010) [hereinafter, Roberts Preempting ].

Id. at 441, 462–63. The congressional findings for GINA did describe, however, the history of abuses on the basis of genetics in the deeply problematic eugenics era, Pub. L. No. 110–233, § 2(2), and stigmatization and discrimination against African-American based on genetic traits, Id. § 2(3), which in combination with ‘the current explosion in the science of genetics . . . compels Congressional action in this area’, Id. § 2(2).

The Human Genome Project Completion: Frequently Asked Questions , Nat'l Human Genome Research Inst . https://www.genome.gov/11006943/human-genome-project-completion-frequently-asked-questions/ (noting that ultimately the federal government only paid $2.7 billion dollars and was completed in 2003, two years in advance of its projected end date) (last visited Dec. 11, 2018).

Ifeoma Ajunwa, Genetic Data and Civil Rights , 51 Harv. C.R.-C.L. L. Rev . 75, 85 (2016).

Sonia M. Suter, The Allure and Peril of Genetics Exceptionalism: Do We Need Special Genetics Legislation? , 79 Wash. U. L. Q. 669, 674–75 (2001); see also Ajunwa, supra note 12, at 85–87.

See eg Paul R. Billings et al., Discrimination as a Consequence of Genetic Test ing, 50 Am. J. Hum. Genet. 476 (1992); E. Virginia Lapham et al., Genetic Discrimination: Perspectives of Consumers , 274 Science 621 (1996).

See Mark A. Hall, Legal Rules and Industry Norms: The Impact of Laws Restricting Health Insurers’ Use of Genetic Information , 40 Jurimetrics 93 (1999) (noting that ‘genetic discrimination by health insurers [was] very low or nonexistent, both before [state genetic-specific antidiscrimination laws] were enacted and afterwards’).

Suter, supra note 13, at 678–82 (noting that these media accounts frequently follow a formula of first describing the promise of these advances and then detailing the perils of discrimination they threaten).

Roberts GINA, supra note 2, at 603–06.

‘Prior to enactment of GINA, 34 states and the District of Columbia had promulgated their own genetic discrimination laws’. Stephen E. Trimboli & Marissa B. Ruggiero, Navigating the Genetic Information Nondiscrimination Act of 2008 , Fed. Lawyer , Nov./Dec. 2011, at 26.

See Suter, supra note 13, at 690–96; Table of State Statutes Related to Genomics , Nat'l Human Genome Research Inst . https://www.genome.gov/27552194/ (last visited Jun. 1, 2018).

29 U.S.C. §§ 1181–82 (2006), 42 U.S.C. §§ 300gg-41 (2006) (prohibiting the use of genetic information to determine eligibility or set premiums or the treatment of genetic information as a preexisting condition).

For example, it did not prevent discrimination of the group, did not prohibit insurers from seeking genetic information or requiring genetic tests, and it did not apply to individual health insurance policies or non-employer group plans. See Roberts, Preempting, supra note 9, at 443–44; Lori B. Andrews et al., Genetics: Ethics, Law and Policy 720 (4th ed. 2015).

Pub. L. No. 110–233, § 2(5).

Id. (emphasis added).

See Turna Ray, After GINA, Where Do Life Insurance Firms Stand on Using Genomic Information for Coverage Decisions , GenomeWeb , Mar. 3, 2010, https://www.genomeweb.com/dxpgx/after-gina-where-do-life-insurance-firms-stand-using-genomic-information-coverag#.XA_8ZmhKg2w (noting ‘the prevailing view among payors that health insurance is different in scope and societal function from life insurance, since the former grants individual access to health services by reimbursing doctors, hospitals, and pharmacies, and the latter provides financial protection to individuals and their families’) (last visited Jun. 1, 2018); Sarah Zhang, The Loopholes in the Law Prohibiting Genetic Discrimination , Atlantic , Mar. 13, 2017, https://www.theatlantic.com/health/archive/2017/03/genetic-discrimination-law-gina/519216/ (noting that although early bills included protections against discrimination in coverage for life insurance, long-term care, and disability, the ‘political calculation was made that health insurance and employment were where the arguments were strongest and the support was strongest’) (quoting Jeremy Gruber, GINA advocate and former president of the Council for Responsible Genetics) (last visited Jun. 1, 2018).

Suter, supra note 13, at 691, Table 1 & 702.

Lowe v. Atlas Logistics Group Retail Services (Atlanta), L.L.C., 102 F. Supp. 3d 1360, 1367–68 (N. D. Ga. 2015) (describing the late Representative Louise Slaughter's discussions of examples of how GINA would protect individuals when genetic tests revealed they were at increased risk of certain diseases) (emphasis added).

See Mark A. Rothstein et al., Limiting Occupational Medical Evaluations Under the American with Disabilities Act and the Genetic Information Nondiscrimination Act , 41 Am. J. L. & Med. 523, 550 n.187 (noting that of 35 state statutes prohibiting employment discrimination, only 4 included family history in protected genetic information).

See infra Part II.A.

Suter, supra note 13, at 701–02.

Title III contains miscellaneous provisions, including severability provisions, Pub. L. No. 110–233, § 301, and child labor provisions, Id. § 302.

Id. § 101 (amending the Employment Retirement Security Act of 1974).

Id. § 102 (amending the Public Health Service Act). It also applies to ‘Medigap insurance and state and local federal governmental plans’. Trimboli & Ruggiero, supra note 18, at 24.

Protections against eligibility decisions for group health plans based on genetic information were already prohibited under HIPPA. See supra text accompanying note 20.

29 U.S.C. §§ 1181–82 (2006), 42 U.S.C. §§ 300gg-41 (2006).

Pub. L. No. 110–233, § 101 (amending the Employee Retirement Income Security Act of 1974); Id. § 102 (amending the Public Health Services Act); Id. § 103 (amending the Internal Revenue Code).

Mark A. Rothstein, GINA’s Beauty is Only Skin Deep , 22 Gene Watch No. 2 at 9 (Apr.–May 2009) [hereinafter Rothstein, Skin Deep ], http://www.councilforresponsiblegenetics.org/GeneWatch/GeneWatchPage.aspx?pageId=184

Pub. L. No.110–233, §2753(a)–(c).

Pub. L. No. 111–148, as modified by the Health Care and Education Reconciliation Act, Pub. L. No. 111–152.

Amanda K. Sarata et al., Cong. Research Serv., R41314, The Genetic Information Nondiscrimination Act of 2008 and the Patient Protection and Affordable Care Act of 2010: Overview and Legal Analysis of Potential Interactions 5–6 (2011). For example, ‘under GINA, a group health plan and a health insurance issuer may not adjust premium or contribution amounts on the basis of genetic information’, and under ‘the ACA, certain health insurance issuers may only vary premiums based on certain specified factors (i.e., tobacco use, age, geographic area, and self-only or family enrollment)’. Id. at 5. ‘[T]hese provisions of the ACA and GINA are not identical in scope’, however. Id. For example, the ACA ‘limitations on premium amounts . . . apply only to health insurance issuers in the individual and small group markets’, whereas such limitations under GINA also apply ‘to self-insured group health plans or insurers in the large group market’. Id. Moreover, ‘this section of the ACA applies only to premium rates, whereas GINA applies to premiums as well as contribution amounts’. Id.

Pub. L. No. 110–233, §§ 101–106; see also Sarata et al. , supra note 41, at 3–4.

Pub. L. No. 110–233, § 202(a).

Id. § 202(b).

See infra note 181 and accompanying text.

The exceptions include inadvertent requests, as part of a wellness program where the employee voluntarily provides such information and the employer only receives information ‘in aggregate terms that do not disclose the identity of specific employees’, and when the employer requests family medical history to comply with Family and Medical Leave Act certification. Id. § 202(b) (1)–(5) (also excepting instances ‘where the employer purchases documents that are commercially or publicly available’ and instances of ‘genetic monitoring of the biological effects of toxic substances in the workplace’ if among other things the testing is voluntary and the employer receive results ‘only in aggregate terms that do not disclose the identity of specific employees’).

See supra text accompanying note 28 and infra text accompanying notes 154–163, 173.

Pub. L. No. 110–233, § 101(d), 102(a)(1)(B), 103(d), 104(b), 201(4)(A)(i)-(iii); 42 U.S.C. § 2000ff(A)(i)–(iii).

Pub. L. No. 110–233, §§ 101(d), 102(a)(1)(B), 103(a)(2), 104(b), 201(7).

See Morse Hyun-Myung Tan, Advancing Civil Rights, the Next Generation: The Genetic Information Nondiscrimination Act of 2008 and Beyond , 19 Health Matrix 63, 67 (describing cases reports where discrimination was based on such information).

See infra text accompanying notes 175–176.

42 U.S.C.A. § 2000ff (4) (B). The definition, however, excluded ‘information about the sex or age of any individual’. Id. § 2000ff (4) (C).

Rothstein, Skin Deep, supra note 38, at 9 (noting that GINA also ‘does nothing to prohibit discrimination in ... mortgages, commercial transactions, or any other possible uses of genetic information’).

See supra note 26 and accompanying text.

Pub. L. No.110–233, § 101(a)(3); 29 U.S.C.A. § 1182 (emphasis added) (noting that GINA does not preclude insurers ‘offering health insurance coverage in connection with a group health plan’ from increasing the premium for an employer on that basis); Pub. L No. 110–233, § 102(a)(3); 42 U.S.C.A. § 300gg–1 (same); Pub. L. No. 110–233, § 2753 (a)(2), (b)(2), & (c)(2); 42 U.S.C.A. § 300gg–52 (noting that GINA does not preclude insurers ‘from establishing rules for eligibility for an individual to enroll in individual health insurance coverage’, ‘adjusting premium or contribution amounts for an individual’, or ‘imposing any preexisting condition exclusion for an individual with respect to health insurance coverage’ on that basis).

Pub. L. No. 110–233, § 210; 42 U.S.C. § 2000ff-9 (emphasis added).

As Mark Rothstein has pointed out, however, some individuals may find themselves protected by neither GINA nor the ADA. Someone with evidence of the early stages of illness from ‘sensitive biomarkers and sophisticated analyses of endotypes’ would not be protected under the ADA because its protections are limited to severely affected individuals. But because GINA does not define ‘a manifested disease, disorder, or pathological condition’, it is not clear whether such an individual would be presymptomatic and protected under GINA or affected by a manifested disease and not protected under GINA. Mark A. Rothstein, GINA, the ADA, and Genetic Discrimination in Employment , 36 J. L. Med & Ethics , 837, 838–39 (2008) [hereinafter Rothstein, GINA ].

Before the ACA was enacted, this approach led to inequities in protections against genetic discrimination depending on whether someone was at risk for a genetic condition, for which GINA and related state laws offered protections, or had developed the genetic condition, in which case GINA would not prohibit insurance discrimination. See Suter, supra note 13, at 715–21; Rothstein supra note 57, at 837.

See eg Hall, supra note 15, at 97.

Suter, supra note 13, at 706–07.

Id. at 708–09. As I have argued before and shall discuss at greater length in Part III, the line between presymptomatic and symptomatic genetic information raises other justice issues. Id. at 715–21 (describing the inequities of protecting against health insurance discrimination for individuals who have presymptomatic genetic risks when no such protections exist for those with symptomatic genetic diseases whose need for insurance is especially because of the development of disease).

Cf. Roberts, GINA, supra note 2, at 634.

Brad Areheart presented his findings about GINA litigation at The Genetic Information Non-Discrimination Act (GINA) at 10 Years, 112th AALS Annual Meeting (Jan. 5, 2018). He found 198 cases that mention GINA, but only roughly 100 have orders dealing with GINA. Approximately 40% of those cases involve ‘overclaiming strategies’ where every discrimination claim in the books is raised. Of the 60 cases that remained a number either lacked facts to support the claim, were procedurally or time barred, or were resolved on other grounds. He found no more than 16 cases that addressed substantive features of GINA. Id.

See Id. (noting that 6 of the 16 substantive GINA cases concerned the employer's use or acquisition of medical information that did not constitute genetic information under GINA).

852 F. Supp. 2d 727 (W.D. Va. 2012).

Id. at 729.

Id. at 731.

Id. at 730.

Id. (citing H.R. Rep . No. 110–28, pt. 3, at 70 (2007); 2008 U.S.C.C.A.N. 112, 141) (emphasis added).

Id. (citing H.R.Rep . No. 110–28, pt. 1, at 36 (2007); 2008 U.S.C.C.A.N. 66, 80).

Id. (citing H.R. Rep . No. 110–28, pt. 2, at 27 (2007); 2008 U.S.C.C.A.N. 101, 105-106); see also Regulations Under the Genetic Information Nondiscrimination Act of 2008, 75 Fed. Reg. 68,917 (Nov. 9, 2010).

42 U.S.C. § 2000ff(4) (emphasis added).

Id. §2000ff (3).

29 C.F.R. 1635.3(a)(1) (emphasis added).

Amanda K. Sarata et al., Cong. Research Serv. , R44311 , Employer Wellness Programs and Genetic Information: Frequently Asked Questions 1 & n.7 (2015) [hereinafter Sarata et al., Wellness ]; but see Andrews et al. , supra note 21, at 791 (arguing that the ‘definition of “family” member excludes spouses, but covers dependents, including those that result from marriage or adoption . . . .’).

75 Fed. Reg. 68915 (citing Comments of Illinois Chamber of Commerce (ICC) and Chamber/SHRM).

Id. As others have pointed out, ERISA is a statute that addresses ‘employee benefits, including retirement and health benefits’, lending further support to this interpretation. Sarata et al., Wellness , supra note 78, at 1 n.7.

Cong. Research Serv. , R44311 , Employer Wellness Programs and Genetic Information: Frequently Asked Questions 3 (2017), https://www.everycrsreport.com/files/20170404_R44311_283735bb7bf16657375105e8f573646ab92b9bf0.pdf (last visited Jun. 2, 2018).

Id. at 3; 75 Fed. Reg. 68915 (Nov. 9, 2010) (citing S. Rep. No. 110–48 at 28, which indicates that ‘spouses and adopted children were included in the definition of family member for this exact reason’).

42 U.S.C. 2000ff (4)(A)(iii).

No. 3:12-cv-482, 2013 WL 2467923 (D. Conn. June 6, 2013).

Id. at *23.

Id. (quoting Poore , 852 F. Supp. 2d at 731) (emphasis added).

See supra text accompanying note 75–83.

§ 201(3) (B).

No. 2:12-cv-03426-IPJ, 2013 WL 5428448 (N.D. Ala. Sept. 26, 2013).

Id. at *11.

Id. (citing to and quoting Background Information for EEOC Final Rule on Title II of the Genetic Information Nondiscrimination Act of 2008, http://www.eeoc.gov/laws/regulations/gina-background.cfm (last visited Jun. 2, 2018).

42 U.S.C. § 2000ff4(A).

2013 WL 5428448 at *11.

No. cv-13-08044-PCT-BSB, 2014 WL 4470512 (D. Ariz. Sept. 11, 2014).

Id. at *13–14.

Id. at *13.

Id. at *14 (citing 42 U.S.C. § 2000ff-1(b)).

Id. at *16 (quoting Poore , 852 F. Supp. at 730 (quoting H.R. Rep . No. 110–28, pt. 3, at 70 (2007), 2008 U.S.C.C.A.N. 112, 141)).

Id. (quoting Poore, 852 F. Supp. at 730 (quoting H.R. Rep . No. 110–28, pt. 2, at 27 (2007), 2008 U.S.C.C.A.N. 101, 105)).

Id. at *17. The court also denied the plaintiff's motion for summary judgement on the grounds that he did not adequately address whether the employer's acquisition of the alleged genetic information was inadvertent when it failed to direct the medical provider not to disclose Maxwell's genetic information. Id. at *15.

Id. at *17.

No. 5:17-CV-243-DAE, 2018 WL 6252533 (W.D. Tex. Oct. 9, 2018).

Id. at *2 (quoting Poore v. Peterbilt of Bristol, LLC , 852 F. Supp. 2d 727, 730 (W.D. Va. 2012)).

Id. (quoting Poore , 852 F. Supp. at 730 (quoting H.R. Rep . No. 110–28, pt. 2, at 27 (2007))).

No. 4:17-2059, 2018 WL 3140242 (S.D. Tex. June 27, 2018).

No. 16-134-DLB-CLS, 2018 WL 3078760 (E.D. Ky. June 21, 2018).

Id. at *15–16. Although the doctor was working as an agent for the employer, the court rejected the employer's attempts to argue the acquisition of the information was inadvertent because the employer had failed to use the EEOC regulations’ ‘safe-harbor language or similar language’ to direct the health care provider not to provide it with genetic information. Id. at *16–17. Moreover, it reasoned that the request for medical information was ‘extremely broad’ and therefore made it likely that the employer would obtain genetic information. Id. at *17.

Id. at *18.

No. CV-17-00201-TUC-RM, 2018 WL 6110930 (D. Ariz. Nov. 21, 2018).

No. 14-cv-02560-CMA-MJW, 2016 WL 67654 (D. Colo. June 6, 2016).

Id. at *13 (quoting 42 U.S.C. § 2000ff(4)(A)).

No. 3:13-cv-222, 2015 WL 914440 (S.D. Ohio Mar. 3, 2015).

Id. at *1–2.

Id. at *11. He also brought a claim under the Age Discrimination in Employment Act, 29 U.S.C. §§ 623(a)(1), because of the different physical requirements for individuals like him over the age of 40 and those under the age of 40. Id. at *5.

Id. at *11 (quoting 42 U.S.C. § 2000ff(4)(A)(iii) (stating that genetic information is, in part, ‘information about . . . the manifestation of a disease or disorder in family members of the individual’)).

Furthermore, unlike the Maxwell court, it noted that the employer's acquisition of the genetic information was not inadvertent and it was not absolved of liability merely because a health care provider and not the employer created the questionnaire. The court quoted the implementing regulations, which note that an employer is responsible for telling ‘health care providers not to collect genetic information, including family medical history, as part of a medical examination intended to demonstrate the ability to perform a job, and must take additional reasonable measures within its control if it learns that genetic information is being requested or required’. Id. at *12 (quoting 29 C.F.R. § 1635.8(d)).

191 F. Supp. 3d 994 (W.D. Mo. 2016).

Id. at 995.

Id. at 998.

Id. at 997 (quoting 29 C.F.R. § 1635.8(a) (noting that GINA prohibits employers from ‘making requests for information about an individual's current health status in a way that is likely to result in a covered entity obtaining genetic information’).

Id. at 998 (also awarding damages for violations of the American with Disabilities Act).

102 F. Supp. 3d 1360 (N.D. Ga. 2015).

See eg Gina Kolata, ‘Devious Defecator’ Case Tests Genetic Law , n. y. Times , May 29, 2015, https://www.nytimes.com/2015/06/02/health/devious-defecator-case-tests-genetics-law.html (last visited May 15, 2018). This case is also believed to be the first GINA case to go to trial. Natasha Gilbert, Why the ‘Devious Defecator’ Case is a Landmark for US Genetic-Privacy Law , Nature , June 25, 2015, https://www.nature.com/news/why-the-devious-defecator-case-is-a-landmark-for-us-genetic-privacy-law-1.17857 (last visited May 15, 2018).

102 F. Supp. 3d at 1361.

Id. at 1363.

Id. at 1362.

Id. at 1365.

42 U.S.C. § 2000ff(4)(i).

42 U.S.C. § 2000ff(7).

102 F. Supp. 3d. at 1365.

Id. at 1365–66.

Id. at 1368; Id. at 1367–68 (describing the late Representative Louise Slaughter's discussions of examples of how GINA would protect individuals when genetic tests revealed they were at increased risk of certain diseases).

Id. at 1368 (citing H.R. Rep . No. 110–28, pt. 3, at 70 (Mar. 29, 2007)) (emphasis added).

Id. at 1366.

Id. (citing 42 U.S.C. § 2000ff-1(b)(6)).

Id. at 1368.

For example, the FBI suggested a narrower definition of a genetic test: ‘analysis of human DNA, RNA, chromosomes, proteins, or certain metabolites in order to detect disease-related genotypes or related phenotypes.’ Id. (quoting H.R. Rep . 110–28, pt 3, at 68).

Id. at 1370 (quoting 29 C.F.R. § 1635.3(f)(1)-(2)).

Id. at 1369.

Cmty. for Creative Non-Violence v. Reid, 490 U.S. 730, 739 (1989) (‘The starting point for our interpretation of a statute is always its language.’).

Norma Singer & Shambi Singer, 2A Sutherland Statutory Construction § 45:5 (7th ed., 2017).

Caminetti v. United States, 242 U.S. 470, 485 (1917) (noting that in those instances the ‘duty of interpretation does not arise and the rules which are to aid doubtful meanings need no discussion’).

See Matter of Tranwest Resort Properties, Inc., 881 F.3d 724 (9th Cir. 2018) (quoting Exxon Mobil Corp. v. Allapattah Servs., Inc. , 545 U.S. 546, 567 (2005)).

Caminetti , 242 U.S. at 485.

Brown v. Williamson, 529 U.S. 120, 132 (2000).

135 S. Ct. 2480, 2489 (2015) (quoting Id. at 133). The court's duty ‘after all is “to construe statutes, not isolated provisions.”’ Id. (quoting Graham County Soil and Water Conservation Dist. v. United States ex rel. Wilson, 559 U.S. 280, 290 (2010)); see also Robinson v. Shell Oil Co., 519 U.S. 337, 341 (1997) (Courts must consider ‘the language itself, the specific context in which that language is used, and the broader context of the statute as a whole’.).

102 F. Supp. 3d. at 1368.

42 U.S.C. § 2000ff.

75 Fed. Reg. 68912-01 (Nov. 9, 2010).

In addition, the EEOC was not persuaded by the concerns of these groups that charges would be filed under GINA based on a common cold or the flu in family members. Id.

Suter, supra note 13, at 703.

852 F. Supp. 2d at 730 (citing H.R. Rep . No. 110–28, pt. 2, at 27 (2007); 2008 U.S.C.C.A.N. 101, 105-106; see also Regulations Under the Genetic Information Nondiscrimination Act of 2008, 75 Fed. Reg. 68,917 (Nov. 9, 2010).

Id. (citing H.R. Rep . No. 110–28, pt. 1, at 36 (2007), 2008 U.S.C.C.A.N. 66, 80).

2014 WL 4470512 at *17.

See Jessica Roberts, Protecting Privacy to Prevent Discrimination , 56 Wm. & Mary L. Rev. 2097, 2128 (2015) (describing GINA as having providing ’both privacy and antidiscrimination protections’, where the former works, in part to prevent discrimination by prohibiting ‘attempts to obtain genetic information’) [hereinafter, Roberts, Protecting Privacy ].

Id. at 2130.

Id. at 2149 (noting also that the privacy protection is ‘preemptive’ in that it allows the employee to challenge an employer's ‘prying’ before any discriminatory actions occur).

Id. at 1249–50.

Id. at 1254 (describing the first GINA case settled by the EEOC, which did not require the employee to ‘establish why she denied employment or whether the denial was appropriate just that the employer made an inquiry related to her genetic information by asking for her family history’). Similarly, when the EEOC promulgated the final rule, it removed earlier references to ‘deliberate acquisition’ with respect to the prohibitions of acquisition of genetic information, indicating that the privacy violations of GINA did not require ‘specific intent’. As Professor Ajunwa notes, the EEOC ‘recognized the difficulty for a claimant to prove deliberate acquisition of genetic information by the accused’, eliminating a hurdle that might be insurmountable in the way that proving intent to discriminate can be insurmountable. Ajunwa, supra note 12, at 102 (describing Regulations Under the Genetic Information Nondiscrimination Act of 2008, 75 Fed. Reg. 68, 912 (U.S. Equal Emp’t Opportunity Comm’n Nov. 9, 2010) (to be codified at 29 C.F. R. pt. 1635)).

Id. at 1250.

42 U.S.C. § 12101 (1).

Rothstein, GINA, supra note 2, at 839.

See Lucia Lopalco, CCR5: From Natural Resistance to a New Anti-HIV Strategy , 2 Viruses 574, 574 (2010).

Richard Myers, Huntington's Disease Genetics , 1 NeuroRX 255 (2004).

The two main mutations associated with heritable breast cancer, BRCA1 and BRCA2, present a 65–80% lifetime risk of breast cancer and a 20–45% risk of ovarian cancer in female carriers. Jessica Chan et al., Reproductive Decision-Making in Women with BRCA1/2 Mutations , 26 J. Genet. Counseling 594, 594 (2017).

See eg Suter, supra note 13; Mark A. Rothstein, Genetics Exceptionalism and Legislative Pragmatism , 35 Hastings Ctr. Rep . 27 (2005). Genetics exceptionalism can apply to policy approaches that provide special protections just for genetic information. There is another sense of genetics exceptionalism, or perhaps better described as genetics essentialism that I am not discussing here. This notion views genes as uniquely important in explaining illness and who we are. See eg Ajunwa, supra note 12, at 85–87.

Suter, supra note 13, at 706–09.

Id. at 712–15; Mark A. Rothstein, GINA at Ten and the Future of Genetic Nondiscrimination Law , 48 Hastings Ctr. Rep . 5, 6 (2018).

Suter, supra note 13, at 715–21.

42 U.S.C. § 12112(d)(3).

Rothstein, Skin Deep, supra note 38, at 9.

See supra note 46 and accompanying text.

42 U.S.C. §§ 12112(d).

See supra text accompanying notes 198-199.

California has enacted legislation providing such protections. Cal. Civ. Code §§ 56.20-56.245.

Roberts, GINA, supra note 3, at 622.

42 U.S.C. § 12112(b)(5)(A).

Areheart, supra note 11, at 711–12; Roberts, GINA, supra note 3, at 627–28.

Roberts, GINA, supra note 3, at 639.

Id. ; Areheart, supra note 11, at 712.

Sonia Suter, Address at The Genetic Information Non-Discrimination Act (GINA) at 10 Years, 112th AALS Annual Meeting: GINA's 10-Year Checkup (Jan. 5, 2018) (presenting data from numerous studies showing that most people are unaware of GINA; many misunderstand the scope of its protections; and to the extent that people are aware of it, the data are mixed as to whether it allays or strengthens their fears).

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• v.7(1); Jan-Dec 2020

Genetic discrimination: emerging ethical challenges in the context of advancing technology

Carolyn riley chapman.

Division of Medical Ethics, Department of Population Health, NYU School of Medicine, New York, NY, USA

Genetic testing is becoming more widespread, and its capabilities and predictive power are growing. In this paper, we evaluate the ethical justifications for and strength of the US legal framework that aims to protect patients, research participants, and consumers from genetic discrimination in employment and health insurance settings in the context of advancing genetic technology. The Genetic Information Nondiscrimination Act (GINA) and other laws prohibit genetic and other health-related discrimination in the United States, but these laws have significant limitations, and some provisions are under threat. If accuracy and predictive power increase, specific instances of use of genetic information by employers may indeed become ethically justifiable; however, any changes to laws would need to be adopted cautiously, if at all, given that people have consented to genetic testing with the expectation that there would be no genetic discrimination in employment or health insurance settings. However, if our society values access to healthcare for both the healthy and the sick, we should uphold strict and broad prohibitions against genetic and health-related discrimination in the context of health insurance, including employer-based health insurance. This is an extremely important but often overlooked consideration in the current US debate on healthcare.

Introduction

The international focus on and investment in genetic research will undoubtedly increase the ability to use genetic testing to predict many different individual characteristics and phenotypes, including the propensity for disease. According to the US National Institutes of Health (NIH), precision medicine is ‘an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person’. 1 Many rare diseases are caused by a single gene defect. More common diseases such as diabetes and heart disease are polygenic and complex in nature, but scientists are identifying genetic factors that predict the risks of these diseases with greater precision and accuracy. 2 Other genetic research is aimed at strengthening the predictive power of genome-wide polygenic scores for specific measures of intelligence (and/or educational attainment) 3 and athleticism. 4 Although the accuracy and predictive power of polygenic risk scores still need improvement, 5 it’s clear that many scientists are working to address this challenge. 6 Regardless of whether selecting embryos for higher IQ is in the realm of possibility, 7 genetic testing is enabling increasingly accurate predictions about human characteristics.

The Genetic Information Nondiscrimination Act (GINA) was enacted in 2008. In large part, the law was intended to allow patients to take advantage of genetic testing in clinical and research settings without fearing genetic discrimination. With knowledge about genotype/phenotype associations continuing to grow, it is worth reexamining the ethical justifications for prohibitions against genetic discrimination in employment and health insurance settings. Are our laws and policies sufficient, or will they need to evolve? With increasing accuracy of genetic testing, would it ever be appropriate to use genetic information to discriminate against or classify individuals in employment or health insurance settings? Our analysis must acknowledge that GINA has created an ethical obligation in its own right: Consumers, patients, and research participants have consented to genetic testing with the expectation that the results cannot be used in employment or health insurance settings.

We divide this paper into three parts. In Part I, we analyze ethical issues related to the use of genetic information by employers and health insurers. We also discuss how these two spheres overlap since many employers provide health insurance for employees. In Part II, we outline the central policies that collectively prohibit discrimination based on genetic information in the United States in employment and insurance settings and discuss the limitations of these protections. We discuss how laws that prohibit employment and health insurance discrimination based on health status are also important in the context of genetic conditions, when and if genetic disease becomes symptomatic. In Part III, we consider current and future challenges to the legal framework that prohibits genetic discrimination in employment and health insurance settings and make recommendations based on our ethical analysis. In the future, employers might justifiably argue that genetic information is relevant in specific employment decisions, and carveouts to GINA may indeed be warranted in narrow circumstances. However, if our society values equal access to healthcare, we must preserve broad and strict prohibitions against genetic and other health status discrimination in health insurance settings. The US health insurance system, which relies on for-profit insurers as well as employers, may become increasingly ethically problematic over time, if our predictive capabilities increase and insurance providers push back against protections in GINA and the Affordable Care Act (ACA).

Part I. Genetic Discrimination: Why and Why Not

There is rationale for employers and health insurance providers to use genetic information about potential and/or current employees and insureds, but as the enactment of GINA demonstrates, there are many reasons to prohibit genetic discrimination in these settings ( Tables 1 and ​ and2). 2 ). Notably, some of the ethical concerns relating to genetic discrimination differ in these two contexts. Yet these spheres do intersect, as many US citizens acquire health insurance through employers.

Considerations for use of genetic information in employment settings

Considerations for use of genetic information in health insurance settings

Employment Settings

Many factors—including accuracy of the information, relevance, uncertainty, control, and contractual expectations—influence whether it is fair to use genetic information in employment settings ( Table 1 ). Yet some of the reasons to disallow genetic discrimination in employment settings, such as lack of control over genotype and the predictive/probabilistic nature of the information, are also true of other factors that are used for employment decisions. Therefore, aside from the contractual expectations established by GINA, it seems that the most important ethical concerns regarding genetic discrimination in employment settings are accuracy and relevance of the information ( Table 1 ). At least theoretically, some characteristics that can or will be predicted by genetic testing seem relevant to an employee’s ability to do certain jobs well or safely, either in the present or future. Since genetic factors influence individual traits, they almost certainly bear on employee characteristics. Employers may want to use genetic information to select, advance, not advance, or terminate employees based on predictions of traits, such as intelligence, athleticism, or empathy, among other phenotypes influenced by genetic factors. For example, sports teams have expressed interest in using genetic information to understand players’ unique abilities. 8 There is some evidence that certain genetic variants are correlated with world-class athletic performance. 9 Conversely, there are known genetic variants that raise an individual’s risk of cardiac arrest, particularly during exercise. 10 Employers of bus drivers or pilots may have a legitimate interest in genetic factors that would, hypothetically, significantly increase the chance of suffering an epileptic attack. 11 The US military, which is exempt from coverage by GINA, routinely screens service personnel for genetic conditions such as sickle cell trait and glucose-6-phosphate dehydrogenase (G6PD) deficiency and will likely leverage genomic technologies to support its mission. 12

If relevance of genetic information can be granted in at least some specific situations, then accuracy of the information remains as the largest ethical concern ( Table 1 ). Some believe that the complexity of genetics will always limit accurate prediction of complex traits like intelligence or athletic ability. Thus far, our understanding of the extent to which genetics versus environment contributes to most traits has been limited. Even genetic mutations with high penetrance can lead to disparate expressions for each individual. Genetic mutations with narrow expressivity—meaning affected individuals have similar physical manifestations—will still be experienced differently by each individual, thus reducing capacity to make precise predictions from genotypes. Because ‘any risk assessment, and any prediction about sudden, adult-onset symptoms would be extremely speculative’, many believe that using genetic risk factors in employment settings is not scientifically justified. 13 Further, because tests prove capability by demonstration, they are arguably more reliable—and more fair—than using genetic information: ‘ethical justification of bona fide occupational qualifications seems less problematic with traits (such as eyesight) than as probabilities of phenotypes…there are ethical differences between discrimination based on a manifest trait and on a genotype’. 14

Another view is that using genetic information in employment decisions would contribute to fairness if such information provided objective, scientific probabilities of success. In some cases, decisions informed by genetics would not only benefit the employer but could also protect the well-being of the would-be employee; for example, an individual may ‘have genetic-based sensitivities to certain environments’. 15 Although currently prohibited by GINA, genetic information could theoretically be used to inform accommodations for individuals. Perhaps similar to protections required by the Americans with Disabilities Act (ADA), 16 accommodations should be provided as long as they enable the individual to successfully complete required duties without imposing undue burden on the employer.

With additional knowledge about the relationship between genotype and phenotype, it may well become ethically justifiable to use genetic information to select employees in situations that implicate safety of the employee or others or to provide appropriate accommodations. As a hypothesis, if a seizure disorder can be predicted with absolute certainty, a transportation company could ethically deny a driver position to an individual with such a predisposing mutation unless it could be preemptively treated or reasonably accommodated. If two candidates for a healthcare clinician position in a location prone to a serious virus are otherwise equally qualified, choosing the one who has genetic resistance to the virus would be in the public health’s best interest. As genetic testing becomes more accurate, there may well be situations when the results have relevance for employment decisions.

GINA’s prohibition of any classification based on genetic information expresses the current societal consensus that ‘basing decisions on even accurate genetic risk is socially unacceptable’. 17 But will societal norms change as knowledge grows? A common fallback is that the science will not justify such discrimination. But it seems incongruous for society to be pouring money into genetic research and testing on the one hand and claiming we will never be able to figure out the genetics of complex traits on the other. Although genetics might—at least for the foreseeable future—be too complex to predict broad and multidimensional characteristics such as intelligence or athleticism, genetic testing of less complex traits such as viral resistance or seizure risk might accurately predict ability to perform a job or be used to help individuals perform a job more safely. In cases like these, there would be some ethical justification for the use of genetic information.

Health Insurance Settings

In contrast to employment settings, the relevance of genetic information in health insurance settings is really not up for debate. Health insurers, particularly those that are for-profit entities, have clear rationale to base eligibility or premiums on genetic information, but whether this is fair is controversial ( Table 2 ). As currently structured, the US health insurance industry has inherent conflicts: the more an individual is genetically (or otherwise) predisposed to disease, the less for-profit insurers desire that individual as a customer. The flip is also true; the more an individual is predisposed to disease, the more they desire comprehensive health insurance—a concept known as adverse selection. 18 Whether you think charging higher premiums on genetic bases is ethical depends in part on your political philosophy; on a communal level, the ethics depends on the society’s foundational principles. Libertarians may believe that discrimination based on genetics or health status by for-profit entities is fair, that higher users of healthcare should pay more, and/or that the healthcare insurance industry should function as a free market. If we take risk rating to the extreme, each individual could just pay for the healthcare they use. Another viewpoint is that insurance helps ensure that all individuals have access to basic healthcare, a hallmark of a just society. Similarly, many believe that a just society should ensure that its members have access to education. Pushing the analogy further, some may hold that society should be willing to support sicker individuals who need more healthcare, just as public education mandates more educational supports for those with disabilities. We agree with this view and support strong and broad protections against genetic and health-related discrimination in health insurance settings, especially in the context of increasing capabilities to make predictions about health using genetic and other sources of information. An individual’s access to healthcare should not be penalized for ineluctable genetic risk. Under a public health framework, preserving access to health insurance for individuals with greater genetic risk is consistent with potentially using genetic information to promote safety in employment settings.

Employers as Health Insurers

Complicating matters is the fact that employers play such a big role in providing health insurance in the United States. In 2017, 49 per cent of Americans were covered by employer-based health insurance. 19 Employers that provide health insurance may have interest in genetic information beyond employee efficiency or even the safety of others: they may simply want to reduce healthcare costs for employees and their dependents. Employers can purchase a health plan from a third party insurer or self-insure and cover the healthcare costs of their employees. More employers are turning towards self-insurance to save on healthcare costs, and most Americans with employer-provided insurance are in self-funded plans. 20 There are a number of benefits of self-insuring, including exemptions from state insurance regulations 21 and reduction of healthcare costs, particularly if employees are relatively healthy. 22 But employers that self-insure are, for all intents and purposes, health insurers as well. They take on more financial risk for covering unexpected healthcare costs and as such may ‘feel the impact of their employees’ poor health more acutely’. 23 Healthy employees are also associated with lower replacement, worker compensation, and disability costs. 24

Accordingly, just as health insurers are economically incented to insure healthier individuals since they beget lower costs, employers may be economically incented to hire employees who have less risk of developing disease. 25 Indeed, a 2005 Wal-Mart Stores, Inc. board memo outlined strategies for recruiting healthier job applicants to cut down on healthcare costs and included a directive that all new jobs should ‘include some physical activity (e.g., all cashiers do some cart-gathering)’. 26 Why? 1.3 per cent of those covered by employer-based insurance account for almost 20 per cent of healthcare spending; often these individuals have serious conditions like HIV, MS, rheumatoid arthritis, cancer, and diabetes. 27 To reduce healthcare costs and keep employees healthy, many large employers will turn their attention to high cost claimants. 28 Although the science is not there yet, genetic information may soon allow identification of employees at high risk for many health problems. 29 As the value of genetic information grows and as expensive and personalized therapies become a reality, the rationale and incentives for health insurers and employers to discriminate using genetic information will increase. However, as stated above, we believe that protections against genetic discrimination should remain broad and strong in health insurance settings. Further, ethical concerns arise when employers are interested in employees’ (and their dependent’s) health, for reasons that have nothing to do with their ability to perform the job well or safely.

Part II. Current Laws

In Part II, we analyze the strengths and weaknesses of US laws that collectively provide protections against genetic discrimination in employment and health insurance settings. We first analyze GINA but also briefly review laws that prohibit employment and health insurance discrimination based on health status, including the ADA, the Health Insurance Portability and Accountability Act of 1996 (HIPAA), 30 and the ACA. These are important in the context of genetic conditions that have become ‘manifest’ or symptomatic. We also discuss the importance and limits of privacy protections.

Genetic Information Nondiscrimination Act

GINA, a hybrid privacy and anti-discrimination federal law intended to ‘prohibit discrimination on the basis of genetic information with respect to health insurance and employment’, was enacted in 2008. 31 Before that, a patchwork of state laws existed providing some protections against genetic discrimination, but their scope and applicability varied significantly. 32 GINA aimed to allay the public’s concerns about genetic discrimination so that people could avail themselves of genetic testing in research or clinical settings. It was a preemptive law, addressing the potential for genetic discrimination before it was a widespread problem. 33 Now over a decade old, it is worth examining protections against genetic discrimination in the United States, in the emerging context in which the accuracy and predictive power of genetic testing is increasing.

GINA has a relatively broad definition of ‘genetic information’ which includes not only an individual’s genetic tests but also family history of disease and/or genetic tests. 34 GINA protects individuals from discrimination on the basis of genetic predispositions but also regulates the privacy of genetic information in order to prevent its misuse. 35 GINA prohibits health insurance issuers from using genetic information for underwriting purposes, including for the determination of eligibility or the computation of premiums and from requesting or acquiring genetic information for such purposes. Medical underwriting, as one scholar has astutely noted, could ‘more accurately be called medical underinsuring ’. 36 Likewise, GINA bars employers from basing employment decisions on genetic information or from requesting, requiring, or purchasing it.

Although its protections are broad, GINA does not prohibit all forms of genetic discrimination. 37 As employers with fewer than 15 employees are not subject to GINA regulations, 38 at least 10 per cent of the private sector employed population is not even covered by GINA’s protections against employment discrimination, 39 but some states do extend genetic discrimination protections to smaller employers. Although US military service members and federal employees are not protected by GINA, an executive order protects federal employees from genetic discrimination, and the Department of Defense has its own genetic discrimination policies that may provide protection as well. 40

On the insurance side, GINA does not prohibit life insurance companies, disability insurance companies, or long-term care insurers from using genetic information to deny coverage or raise premiums. The health insurance protections also do not apply to the Tricare military health system, the Indian Health Service, the Veterans Health Administration, or the Federal Employees Health Benefits Program, but these organizations have their own genetic discrimination policies. 41 There are publicized reports of genetic discrimination in life insurance settings. 42 Some states provide more protections: 17 states have laws that provide protections against discrimination in life insurance settings, 17 states have additional protections in disability settings, and eight states restrict the use of genetic information for long-term care insurance. 43 California also has a law which prohibits genetic discrimination in emergency medical services, housing, mortgage lending, and education contexts. 44

Although GINA prohibits discrimination based on genetic predisposition to disease, Section 210 of the law expressly states that employers who use medical information ‘about a manifested disease, disorder, or pathological condition’ shall not be considered in violation of the law, even if the condition has a genetic basis. 45 Therefore, from a practical standpoint, particularly in an era in which traditional clinical tests, biomarkers, and imaging are often used in conjunction with genetic testing to forecast disease, GINA is limited in scope. Even defining when a genetic predisposition has become manifest can be challenging. 46 A middle-aged man who tests positive for an early-onset familial Alzheimer’s disease gene would likely not be covered by GINA if imaging also showed the accumulation of amyloid plaques, nor would a woman diagnosed with breast cancer, even if it has a genetic basis.

To summarize, although GINA provides protections against discrimination based on genetic information in health insurance and employment settings, the law has significant limitations. Most notably, the law provides no protections against genetic discrimination for life insurance, disability insurance, or long-term care insurance. Small employers (with under 15 employees) do not need to comply with GINA. Further, GINA’s protections only apply to individuals who have a genetic result or positive test that exists in the absence of any overt symptoms of the disease or condition. If a positive genetic test precipitates further testing that reveals previously unnoticed clinical manifestations of disease (even at its earliest stages), GINA would not apply.

Complementary Protections: ADA, HIPAA, and ACA

Since GINA does not protect individuals that have manifestations of genetic disease, to fully assess protections from genetic discrimination in the United States, it is necessary to examine other federal laws which provide complementary protections to GINA against employment and insurance discrimination in the more general context of health status. These include the ADA in employment settings and HIPAA and the ACA in the context of health insurance.

The ADA prohibits discrimination based on disability status, defining disability as a physical or mental impairment that substantially limits one or more major life activities, a person who has a history of such an impairment, or a person who is regarded as having such an impairment. Depending on the specific details inherent to any particular case, a positive genetic test and/or asymptomatic disease could arguably fall under the law’s purview in the ‘regarded as’ category. 47 In Bragdon v. Abbott , the Supreme Court ruled that an asymptomatic individual with HIV met the ADA’s definition of having a disability. 48 However, to strengthen the law’s protections, one scholar has proposed that the ADA should be amended to prohibit discrimination against those who do not have current disabilities but who are perceived to be at risk for developing impairments in the future. 49 The ADA prohibits private employers with over 15 employees, state and local governments, employment agencies, and labor unions from discriminating against qualified individuals with disabilities. 50 Like GINA, the ADA includes both privacy and anti-discrimination components. 51

The ADA is based on the justifiable premise that an individual’s disability should not be used as a basis for discrimination if the person is able to perform the job in question. However, the ADA does not prevent employers from discriminating against individuals whose disabilities prevent them from performing the essential functions of a job with or without reasonable accommodation, as these individuals would not meet the definition of ‘qualified individuals’. Employers are required to make accommodations unless they impose an undue hardship. 52 The ADA also allows employers to impose a qualification standard that individuals not pose a ‘direct threat’, defined as ‘a significant risk to the health or safety of others that cannot be eliminated by reasonable accommodation’. 53 A direct threat defense also applies if the employee’s own health or safety would be jeopardized. 54

In health insurance settings, legal protections against discrimination based on pre-existing conditions, often referred to as pre-existing condition protections, vary depending on the type of health insurance. 55 Medicare and Medicaid do not deny eligibility or charge higher premiums for people with pre-existing conditions. 56 Prior to passage of the ACA, individuals covered by employer-based insurance were protected by provisions in HIPAA. 57 Title I of HIPAA prohibits denial of eligibility or benefits based on health factors, which include health status, medical condition, claims experience, and genetic information. HIPAA does not allow pre-existing exclusions based on genetic information in the absence of a diagnosis.

HIPAA’s protections have limits. Although HIPAA prohibits individual premiums from being based on health factors, insurers can charge higher rates for group plans based on collective health status. 58 With some qualifications, HIPAA allows time-limited exclusions (12 or 18 months for late enrollees) relating to a pre-existing physical or mental condition for which advice, diagnosis, care, or treatment was sought or received within the 6-month period ending on the enrollment date. HIPAA’s discrimination protections apply within a group of ‘similarly situated’ individuals, but not across different groups. 59 Although HIPAA provided many protections, it did not limit what insurers could charge individuals who left the group market; these policies often became unattainable because of their expense. 60 Private for-profit companies who offered insurance policies through the pre-ACA individual market might exclude coverage for pre-existing conditions, cap coverage, charge higher prices for coverage, or even deny coverage. 61

Since 2014, the ACA has prohibited health insurance companies from denying coverage or basing premiums on a pre-existing condition. Prior to the ACA’s enactment, health plans in the individual market ‘used individual medical underwriting to assess an applicant’s health status and charged premiums to reflect an individual’s underlying risk’. 62 The ACA’s mandate for insurers to cover pre-existing conditions is made possible by other provisions in the law, including those that encourage enrollment. By imposing a financial penalty on individuals without health insurance (which has since been repealed) and expanding Medicaid eligibility and creating incentives for business to provide health benefits, the ACA increased the number of insured Americans. 63 Prior to the law’s passage, individuals from middle-class families with health insurance who got sick complained of skyrocketing premiums and the cancellation of their insurance. 64 Forty-one states allowed exclusion periods for pre-existing conditions ranging from 6 to 36 months, in which insurers were not required to pay for care related to the condition; nine states and D.C. allowed insurers to impose permanent exclusions. 65 Since the passage of the ACA, personal bankruptcy filings have decreased from 1.5 million annually in 2010 to about 770,000 in 2016. 66 The pre-existing protections of the ACA are so strong that some have rendered GINA’s health insurance protections irrelevant. 67

Importance and Limits of Privacy Protections

A recent review of all published and unpublished federal court decisions involving GINA claims from 2009 to 2018 concluded that although there have been a number of cases involving claims of genetic discrimination, there have been no successful claims filed for discrimination based on genetic test results. 68 Our own research indicates that the vast majority of GINA cases that are prosecuted by the EEOC in employment settings are alleged violations of the privacy clauses. Many include illegal requests for information about family history of disease. These analyses suggest that genetic discrimination is still not a pervasive problem at this time. However, genetic testing has only recently experienced rapid growth in availability and spending; the clinical sequencing market has a 28 per cent compound annual growth rate and expected to reach $7.7 billion by 2020. 69 Perhaps the law just has not yet been fully put to the test. But analysis of the cases also reveals GINA’s power in safeguarding genetic privacy for employees. 70 Employers cannot use genetic information to discriminate if they do not have access to such information.

The 2015 ‘Devious Defecator’ case, Lowe V. Atlas Logistics Group Retail Servs ., demonstrates GINA’s privacy protections. 71 Atlas asked two employees to provide cheek swabs for DNA testing after feces was found on the company’s warehouse floor; the men felt that Atlas had violated GINA by requesting their DNA, even though they were not a match, and filed suit. 72 Atlas claimed it did not break the law because genetic information, as defined by GINA, only refers to information relating to an individual’s propensity for disease. The court rejected Atlas’ interpretation and declared its actions a violation of employee privacy. The employees’ attorney told jurors that in awarding damages, they had to send a clear message to employers across the country: ‘That requesting DNA causes harm. That it caused harm here. And that they have to pay for harm’. 73 The jury awarded the employees with $2.25 million dollars in compensatory and punitive damages. 74

Yet there are exceptions to GINA’s privacy clauses, which may enable the opportunity for discrimination. Employers can legally request genetic information from employees in certain situations, such as to assure work conditions, which may expose employees to toxins, do not cause genomic damage or as part of quality control measures in forensic laboratories that deal with human samples. Employer-based wellness programs are also allowed to request genetic and other (non-job related) health information from employees, but the employee must provide voluntary, prior written authorization, and any individually identifiable genetic information must not be disclosed back to the employer.

While there are many federal and state protections surrounding privacy and confidentiality of health information, there are gaps in protection. HIPAA provides broad protections relating to the privacy of health information, but the HIPAA Privacy and Security rules only apply to covered entities, which include healthcare providers, health plans, and healthcare clearinghouses, and the business associates of covered entities. 75 Some entities that collect private health information are not subject to HIPAA, including direct to consumer genetic testing companies and health apps, leaving a potentially significant gap in protection. 76

Self-disclosure may also be considered a gap in protection: as genetic testing becomes less expensive, the possibility that employees will share genetic information becomes greater. GINA may even give people a false sense of security, as discrimination can be hard to prove. Although privacy of genetic and health information is a critically important means of preventing discrimination, complete privacy may not even be a realistic expectation in an era of big data and genetic reidentification capabilities. Thus, some feel that ‘education and legislation aimed less at protecting privacy and more at preventing discrimination will be key’. 77

Part III. Recommendations

In this section, we consider current and future challenges to the legal framework that prohibits genetic discrimination in employment and health insurance settings and, based on our ethical analysis, make recommendations for responding to these challenges. First, we acknowledge that as the accuracy and predictive power of genetic testing increases, uses of genetic information by employers may be ethically justified in specific circumstances, and additional exceptions to GINA may eventually be warranted. However, any modifications to current laws could only be ethically made after a deliberative and inclusive legislative process, since individuals in the United States currently consent to genetic testing with the assurance that genetic discrimination in employment settings is prohibited by federal law. In the context of health insurance, including employer-based health insurance, we stress the prioritization and safeguarding of strict protections against discrimination based not only on genetic information but on health status more broadly. Under a public health framework, limited uses of accurate genetic information to improve health and safety in employment settings reconcile with preventing the use of genetic information for insurance discrimination purposes. We also assert that privacy protections for genetic information must be preserved, as they are extremely important, particularly in employment settings. These recommendations have implications for the current US policy debate on healthcare.

Carefully consider future exceptions to GINA in employment settings

The ADA and GINA embody our society’s aspirational ideal that genetic information and health/disability status should not be used against employees or job applicants unless it affects their ability to do the job. The EEOC maintains that genetic discrimination in employment settings is illegal because ‘genetic information is not relevant to an individual’s current ability to work’ 78 and that ‘[t]he prohibition on the use of genetic information in employment decision-making is absolute , since the possibility that someone may develop a disease or disorder in the future has nothing to do with his or her current ability to perform a job’. 79 The EEOC has considered adding an exception to allow employers to request genetic information as part of employment screening in some circumstances but did not find evidence of the need for such an exception. 80

Notwithstanding the limited and specific exceptions in which employers can currently legally request and/or use genetic information including an allowance to acquire employee genetic information to monitor biological effects of toxic substances in the workplace, 81 GINA generally precludes the use of genetic information for any purpose. This includes positive or negative discrimination (whether for benefit of employee or others or for accommodation purposes). Thus, GINA can be viewed as an anticlassification law, but not an antisubordination law. The anticlassification principle forbids classifying people on the basis of specified categories, but the antisubordination principle ‘allows classification…to the extent [it] is intended to challenge group subordination’. 82 In contrast, the ADA specifies not only that employers must not discriminate against those with disabilities but that they must accommodate them unless such accommodation imposes undue hardship. In the future, we may understand that individuals with certain genotypes would perform better with certain accommodations; the ethical analysis would be dependent on the details of such a case, but requesting and/or using genetic information to inform accommodation may indeed be justified in specific circumstances.

Another difference between the ADA and GINA is that if an individual poses a risk to others in the workplace (or themselves), the ADA permits a ‘direct threat’ defense. In the future, scientific evidence may suggest that an individual’s genotype would cause the person to be a direct threat to themselves or others if they assume certain duties. Although the details of and evidence relating to any specific case would be critical for rigorous ethical analysis, if the risk could not be mitigated by reasonable accommodation, the use of genetic information in specific circumstances related to ‘direct threat’ situations would be justifiable. Others concur that adding a direct threat defense provision to GINA is appropriate. 83 In the future, GINA may be appropriately modified to add a ‘direct threat’ defense provision to account for those specific cases. With advances in knowledge and technology, we believe that specific exceptions for allowable uses of genetic information in employment settings may indeed become ethical and justifiable if they are proved relevant. However, we must acknowledge that consumers, patients, and research participants have consented to genetic testing under the assurance that genetic discrimination is forbidden in employment settings. Any future allowances of genetic discrimination in employment settings should only be granted through a deliberative legislative process and ought to focus on identifying accommodations and support rather than being used to deny opportunity. Perhaps one of the biggest ethical issues—independent of the increasing accuracy or relevance of genetic information due to technology advances—is that the United States has to live up to the contractual expectations that it has established with the enactment of GINA.

Preserve Strict Prohibitions on Genetic Discrimination in Health Insurance Settings

On the other hand, we believe that genetic discrimination should never be allowed in health insurance settings. Providing citizens with access to healthcare should be a priority of a just society. Passage of GINA indicates broad, bipartisan support that genetic status should not be used to discriminate in health insurance settings. Given the ethical imperative to ensure that individuals are not barred from healthcare based on genetic or other health status, this has important implications for current discussions on regulation of health insurance in the United States and on weighing the advantages and disadvantages of the country’s current reliance on for-profit insurers (including employers). Within the confines of the law, these entities will act in ways that enable them to increase revenues and reduce costs.

The desire for employment opportunities to be based only on ability to perform the job may become compromised by the US dependence on employer-provided health insurance. A national or state-based universal access health insurance system might afford citizens better protection against genetic and health discrimination by health insurers and employers. A system that is so dependent on for-profit insurers will never escape the inherent tension that individuals who are either predisposed to disease themselves or who have dependents at high risk will be less desirable insureds—or insured employees. This consideration may become more important over time as the predictive power of genetic information increases. If individuals are to benefit from our society’s significant investment in genetic research, we must ensure that everyone can access the ‘precision medicine’ that is promised.

Prioritize and Safeguard Pre-existing Condition Protections

As described above, traditional health insurers are currently constrained by the ACA’s pre-existing condition protections, which prevent them from charging higher premiums based on health status. 84 Because GINA only prevents discrimination based on genetic information, but not manifest disease, the ACA’s pre-existing protections are extremely important to individuals who have a condition that is already symptomatic. They are also important to healthy people who are considering genetic testing: ‘without strong insurance protections for pre-existing conditions, [healthy] people will have to weigh the benefits of early tests against the risk that they'll be priced out of the normal health insurance market’. 85 Although pre-existing condition protections in health insurance settings are the most popular aspect of the ACA 86 and they currently remain in place, recent executive, legislative, and judicial actions demonstrate that these provisions cannot be taken for granted.

Although ultimately unsuccessful in attempts to completely repeal the ACA, the 2017 Republican Congress was able to legislatively abolish the ACA’s individual tax penalty for going without health insurance. The mandate and its associated penalty were intended to incent more people to purchase health insurance so that insurers could leverage larger risk pools to keep premiums down. 87 Without the penalty, healthier, younger individuals may forego health insurance or opt for short-term plans, which are exempt from some of the ACA requirements including pre-existing condition protections. 88 In light of the repeal of the tax penalty associated with the individual mandate, 20 Republican state attorneys general and governors filed suit in February 2018 joining Texas v. United States of America and challenging the constitutionality of the ACA. 89 Going against long-standing traditions, Attorney General Jeff Sessions announced in 2018 that the US Justice Department would not defend the constitutionality of certain provisions of the ACA, namely, those that guarantee issuance of coverage, referring to the essential health benefits, and the prohibition of discriminatory rates, otherwise known as pre-existing condition protections. In December 2018, a judge sided with the plaintiffs and invalidated the ACA, without an injunction: the law stands while it makes its way through the courts. 90 Some feel that the ACA, and its pre-existing condition protections, will ultimately be upheld as constitutional, 91 but others warn against complacency. 92 Recent developments lend support to the latter position. 93 In a March 2019 letter to the Fifth Circuit Court of Appeals, the Justice Department indicated its support for the district court’s judgment to invalidate the ACA.

Perhaps evidencing the popularity of the pre-existing condition protections, a group of Republican senators introduced a bill, S. 3388, in August 2018 called ‘Ensuring Coverage for Patients with Pre-existing Conditions Act’. The proposed law would amend HIPAA to include clauses that would prevent group health plans or insurers of group or individual health insurance from denying coverage based on health status, genetic information, medical condition (including physical or mental illness), or medical history. The bill also includes pricing limits and anti-discrimination rules for wellness programs. Although this sounds reassuring, there is a huge loophole in that the bill does not require insurers to cover the treatment of the pre-existing condition. 94 More than 25 patient and consumer groups issued a statement expressing concern that the Senate bill would not sufficiently protect patients with pre-existing conditions. 95 Other bills, such as S.1125, the Protect Act, and H.R. 692, the Pre-existing Conditions Protection Act of 2019, have also been introduced, but patient groups ‘remain concerned that the policies outlined in these bills fall far short of the comprehensive protections and coverage expansion included in current law’. 96 In fact, many different proposals from the current Republican majority to replace the ACA would weaken pre-existing protections. 97 In contrast, patient groups expressed support for the Democrats’ bill, ‘Protecting Pre-Existing Conditions and Making Health Care More Affordable Act of 2019’ (H.R.1884), which was referred to committees in March 2019. 98 Although it remains to be seen how healthcare reform in the United States will evolve, if the ACA is abandoned and pre-existing condition protections are diminished, protections from genetic discrimination in insurance settings would also decrease, as GINA does not apply once symptoms appear. The US Congress will likely wait until after the 2020 elections to turn its attention back to healthcare reform. Debate on different options should address how each potential plan addresses the potential for health discrimination by health insurers.

Uphold Privacy Protections in Employment Settings

Evidencing the fact that US employers are financially and otherwise incented to keep employees healthy, they have increasingly adopted workplace wellness programs to improve employee health, reduce healthcare costs, and increase employee productivity. 99 Touted as beneficial to both employers and employees, these programs have been encouraged by provisions in the ACA, which allow employers to make 30 or 50 per cent of an employee’s premiums contingent on achieving health objectives or tobacco cessation, respectively. 100 Although their efficacy is debated, 101 wellness programs have been especially popular with self-funded employers. 102 Some advise that employer-based wellness programs would be smart to ‘focus on those individuals with elevated risks for or already having poor health status or health behaviors’. 103 Certain companies are providing genetic testing through wellness programs as a benefit to their employees and as a way to reduce healthcare costs, 104 although some programs have encountered employee resistance amidst privacy concerns. 105

Employer-based wellness programs are pertinent to a discussion about genetic and health-related discrimination because they are a legal carveout in which employers can request genetic and other health information from employees, although as noted above, the programs must be run by third parties, and no individually identifiable information should be returned to employers. In other words, because they collect sensitive health and genetic information on employees, there are privacy concerns about employer-based wellness programs. As some proposals to modify the regulations around wellness programs would weaken the privacy protections, ‘Congress may ultimately need to resolve the tension between its avid support for wellness programs and its efforts to stamp out disability discrimination’. 106

One key question about wellness programs is whether the programs still qualify as voluntary and are therefore compliant with ADA and GINA regulations, if financial incentives are offered. In 2016, the EEOC issued rules, under ADA and GINA, that permitted employers to increase premiums by up to 30 per cent of self-only coverage if employees opt out of employer-sponsored wellness programs that request ADA- or GINA-protected information. 107 However, these rules were vacated after being challenged in court. 108 The EEOC is expected to issue new rules on wellness program incentives in December 2019. 109

Although voluntariness is important, what is most concerning and relevant to this discussion is that some proposed laws on wellness programs would allow wellness programs to share employees’ individually identifiable genetic information with employers by exempting them from limitations on wellness programs outlined in ADA and GINA. 110 If the privacy rules of wellness programs are relaxed, it’s not hard to imagine a future scenario in which an employer legally learns that an employee is at high genetic risk for developing a chronic disease. Although illegal under GINA, self-insuring employers would have financial reasons to discriminate against such an individual, even though the person’s health has nothing to do with his or her ability to do the job. If that person was laid off during a business slowdown, it would be difficult for the (former) employee to prove that they were the victim of discrimination. Indeed, employers may at some point argue that hiring such an individual poses an undue financial hardship. But no employer, regardless of size, should be able to deny opportunities to potential or current employees based on genetic information because of a concern about future healthcare costs.

On March 2, 2017, the Preserving Employee Wellness Programs Act 2017 (HR 1313) was introduced but did not pass. It would allow employers to offer employees up to a 30 per cent health insurance discount for providing medical information to wellness programs and allow them to ask employees about their own or their family’s medical history and genetic information or pay a surcharge. 111 Many patient advocacy groups and scholars expressed concerns that HR1313 would have weakened privacy protections offered by the ADA and GINA. 112 As of writing, this legislation has not passed, and since Democrats took control of the House in January 2019, passage of the bill is less of a concern. However, it’s clear that regulations around employer-based wellness programs need clarification. As policies around wellness programs continue to develop, we must make sure that they do not weaken GINA’s strong employee privacy protections.

As genetic testing proliferates and precision medicine matures and evolves, it is important to reevaluate the laws that protect consumers, patients, and research participants from genetic discrimination in employment and health insurance settings. In this paper, we reviewed the ethical arguments that make the case against genetic discrimination in employment and health insurance settings. We examined US policies that protect the privacy of identifiable health information and prohibit employment and health insurance discrimination based on genetic and health status. We establish that existing legislative protections fall short in many ways, fail to address emerging issues, and are under serious threat. We must safeguard and protect broad prohibitions against genetic and health discrimination in health insurance settings, and this includes preserving the privacy protections of genetic information in employment settings. Increasing accuracy and demonstration of relevance of genetic information may justify specific additional exceptions to GINA in employment settings, such as a ‘direct threat’ exception, but modifications to the law can only be made after rigorous societal debate, if at all. Employers should never be permitted to use genetic information to discriminate against employees because of a desire to reduce healthcare costs. The policies that protect against genetic and health-related discrimination in employment and insurance settings need attention, strengthening, and refinement in an environment in which predictive capabilities and healthcare costs both continue to increase. Otherwise, precision medicine will fail to live up to its promise.

Acknowledgments

The authors thank the anonymous reviewers of this manuscript for helpful comments and suggestions. Carolyn Chapman thanks Professor Arthur Kuflik, who advised her masters thesis at Columbia, which served as a foundational base for this paper.

Conflict of interests

The authors have no financial, personal, academic, or other conflicts of interest in the subject matter discussed in this manuscript.

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87 Luhby, supra note 84; Julie Rovner & Julie Appleby, Administration Challenges ACA’s Preexisting Protections in Court , The Washington Post, June 8, 2018.

88 Tami Luhby, People with Pre-Existing Conditions Could Face Tough Times Ahead , CNNMoney, 2018, https://money.cnn.com/2018/03/01/news/economy/pre-existing-conditions-trump/index.html; Robert Pear, Trump’s Short-Term Health Insurance Policies Quickly Run Into Headwinds , The New York Times, August 6, 2018; Karen Pollitz et al., Understanding Short-Term Limited Duration Health Insurance (2018), https://www.kff.org/health-reform/issue-brief/understanding-short-term-limited-duration-health-insurance/ .

89 Rovner and Appleby, supra note 87; Katie Keith, Texas v. United States Oral Arguments in July , Health Affairs Blog, 2019, https://www.healthaffairs.org/do/10.1377/hblog20190412.997469/full/ .

90 Lawrence O. Gostin, Texas v. United states: The Affordable Care Act Is Constitutional and Will Remain So , 321 JAMA 332–333 (2019), http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.2018.21584 .

92 Tara Law, A Judge Ruled Obamacare is Unconsitutional, Here’s How It Could Impact Your Health Insurance , Time.com , 2018, http://time.com/5482004/affordable-care-act-court-ruling/ .

93 Abby Goodnough, Appeals Court Seems Skeptical About Constitutionality of Obamacare Mandate , The New York Times, July 9, 2019, https://www.nytimes.com/2019/07/09/health/obamacare-appeals-court.html .

94 Michael Hiltzik, The GOP Claims Its Proposal Would Protect People with Preexisting Conditions. That’s a lie , The Los Angeles Times, August 28, 2018; Julie Rovner, What a ruling in Texas v. United States could mean for health care , NPR.org , 2018, https://www.npr.org/2018/09/05/644973437/what-a-ruling-in-texas-v-united-states-could-mean-for-health-care .

95 American Lung Association, Senate Health Care Bill Would Not Sufficiently Protect Patients with Pre-Existing Conditions (2018), https://www.lung.org/about-us/media/press-releases/senate-health-care-bill-would.html (last visited May 14, 2019).

96 American Heart Association and other patient advocacy groups, Letter to The Honorable Frank Pallone and The Honorable Greg Walden, Chairman and Ranking Member, House Energy & Commerce Committee (2019), https://www.marchofdimes.org/materials/05-08-19GenericRe-IntroLetterBurritoCoalition.pdf (last visited Aug. 7, 2019).

97 Jon Greenberg, Republican Pre-Existing Protections Leave Some Vulnerable , POLITIFACT 2019, https://www.politifact.com/truth-o-meter/statements/2019/apr/01/mick-mulvaney/republican-pre-existing-protections-leave-some-vul/ .

98 American Heart Association, 26 Patient Groups Support Bill to Stabilize and Strengthen the Affordable Care Act Protecting Pre-Existing Conditions and Making Health Care More Affordable Act of 2019 Introduced in House of Representatives (2019), http://newsroom.heart.org/news/26-patient-groups-support-bill-to-stabilize-and-strengthen-the-affordable-care-act (last visited May 14, 2019).

99 Katherine Baicker, David Cutler & Zirui Song, Workplace Wellness Programs Can Generate Savings. , 29 Health Aff. (Millwood) 304–11 (2010), http://www.healthaffairs.org/doi/10.1377/hlthaff.2009.0626 ; Michael D Parkinson et al., UPMC MyHealth: Managing the Health and Costs of U.S. Healthcare Workers , 47 Am. J. Prev. Med. 403–10 (2014), https://linkinghub.elsevier.com/retrieve/pii/S0749379714001524 ; Adrianno McIntyre et al., The Dubious Empirical and Legal Foundations of Workplace Wellness Programs , 27 Heal. Matrix J. Law-Medicine 59–80 (2017).

100 JAMA. 2019 Apr 16; 321(15): 1462–1463.

101 Jean Marie Abraham, Employer Wellness Programs—A Work in Progress , 321 JAMA 1462–1463 (2019), http://www.ncbi.nlm.nih.gov/pubmed/30990536 .

102 McIntyre et al., supra note 99; Herman, supra note 20.

103 Abraham, supra note 101 at 1463.

104 Natasha Singer, On Campus, A Faculty Uprising Over Personal Data , The New York Times, September 14, 2013; Trottman, supra note 80; Andie Burjek, Genetic Testing Gets Toothy as a Workplace Benefit, Workforce (2016), https://www.workforce.com/2016/11/30/genetic-testing-gets-toothy-test-workplace-benefit/ (last visited Aug. 13, 2019); Tom Murphy, Employers Try Adding Genetic Testing to Employee Wellness Mix, Insurance Journal (2015), https://www.insurancejournal.com/news/national/2015/05/07/367043.htm (last visited Aug. 13, 2019).

105 Singer, supra note 104.

106 McIntyre et al., supra note 99 at 78.

107 U.S. Equal Employment Opportunity Commission, EEOC issues final rules on employer wellness programs (2016), https://www.eeoc.gov/eeoc/newsroom/release/5-16-16.cfm ; U.S. Equal Employment Opportunity Commission, EEOC’s final rule on employer wellness programs and Title I of the Americans with Disabilties Act, https://www.eeoc.gov/laws/regulations/qanda-ada-wellness-final-rule.cfm (last visited May 1, 2019); Jonathan E. O’Connell, EEOC Wellness Regulations Vacated Effective JAN. 1, 2019 , Society for Human Resource Management (SHRM), 2018, https://www.shrm.org/ResourcesAndTools/legal-and-compliance/employment-law/Pages/Court-Report-EEOC-wellness-regulations-vacated.aspx ; Allen Smith, EEOC Ordered to Reconsider Wellness Rules , Society for Human Resource Management (SHRM), 2017, https://www.shrm.org/resourcesandtools/legal-and-compliance/employment-law/pages/aarp-eeoc-wellness-regulations.aspx .

108 Jamie L. Leary, Will the Framework of Laws That Govern Wellness Programs Change Once Again? Take Two Aspirin and Call Me After March, National Law Review, March 6, 2018, https://www.natlawreview.com/article/will-framework-laws-govern-wellness-programs-change-once-again-take-two-aspirin-and .

109 Katherine Kelton, EEOC incentive rules update: What it means for your wellness program Staywell (2019), https://www.staywell.com/insights/impending-eeoc-changes-mean-employer-well-programs .

110 Kathy L Hudson & Karen Pollitz, Undermining Genetic Privacy? Employee Wellness Programs and the Law , 377 N. Engl. J. Med. 1–3, 2 (2017), http://www.nejm.org/doi/10.1056/NEJMp1705283 .

111 Julia Belluz, A New Bill Would Allow Employers to See Your Genetic Information—Unless You Pay a Fine , Vox, March 13, 2017, https://www.vox.com/policy-and-politics/2017/3/13/14907250/hr1313-bill-genetic-information .

112 Reed Abelson, How Healthy Are You? G.O.P. Bill Would Help Employers Find Out , The New York Times, March 10, 2017; American Society of Human Genetics, ASHG opposes H.R. 1313, the Preserving Employee Wellness Programs Act (2017), https://www.eurekalert.org/pub_releases/2017-03/asoh-aoh030817.php ; National Organization for Rare Disorders, NORD issues statement opposing the Preserving Employee Wellness Programs Act (H.R. 1313) (2017), https://rarediseases.org/nord-issues-statement-opposing-preserving-employee-wellness-programs-act-h-r-1313/ ; Roberts, supra note 33.

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Genetic Discrimination

Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against based on their genetics. These questions may be the basis for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and describes what protections GINA does and does not offer.

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Genetic information nondiscrimination act of 2008, implications of gina, employee wellness programs.

The Genetic Information Nondiscrimination Act (GINA) of 2008 protects Americans from discrimination based on their genetic information in both health insurance (Title I) and employment (Title II). Title I amends the Employee Retirement Income Security Act of 1974 (ERISA), the Public Health Service Act (PHSA), and the Internal Revenue Code (IRC), through the Health Insurance Portability and Accountability Act of 1996 (HIPAA), as well as the Social Security Act, to prohibit health insurers from engaging in genetic discrimination. Title II of GINA is implemented by the Equal Employment Opportunity Commission (EEOC) and prevents employers from using genetic information in employment decisions and prevents employers from requesting and requiring genetic information from employees or those applying for jobs.

Health Insurance (Title I)

GINA prohibits health insurers from discrimination based on the genetic information of enrollees. Specifically, health insurers may not use genetic information to determine if someone is eligible for insurance or to make  coverage ,  underwriting  or  premium -setting decisions. Furthermore, health insurers may not request or require individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the law, genetic information includes family medical history, manifest disease in family members, and information regarding individuals' and family members' genetic tests. The  health insurance  protections of GINA extend to private health insurers, Medicare, Medicaid, Federal Employees Health Benefits, and the Veterans Health Administration. For the U.S. Military’s TRICARE insurance program, GINA offers more limited protection. TRICARE may not use genetic information for coverage, underwriting, or premium-setting, but eligibility for TRICARE insurance is contingent upon employment by the U.S. Military, and GINA’s employment protections do not apply to the U.S. Military. The U.S. military  is  permitted to use genetic and medical information to make employment decisions (see next section on “Employment (Title II)” for more information). 

GINA’s health insurance protections  do not  cover long-term care insurance, life insurance, or disability insurance, though some states have state laws that offer additional protections against genetic discrimination in these lines of insurance. Visit the  Genome Statute and Legislation Database  to search for relevant state laws.

The regulations governing the implementation of GINA in health insurance  took effect on December 7, 2009 and are implemented by the Internal Revenue Service, Department of Labor, and Department of Health and Human Services (HHS). GINA amends HIPAA to clarify that genetic information is health information and provides a  finalized  rule that went into effect March 26, 2013.

Employment (Title II)

Title II of GINA is implemented by the Equal Employment Opportunity Commission (EEOC) and prevents employers from using genetic information in employment decisions such as hiring, firing, promotions, pay, and job assignments. Furthermore, GINA prohibits employers or other covered entities (employment agencies, labor organizations, joint labor-management training programs, and apprenticeship programs) from requiring or requesting genetic information and/or genetic tests as a condition of employment. The  regulations  governing implementation of GINA in employment took effect on January 10, 2011.

An important exception to Title II of GINA involves the U.S. Military. The military  is  permitted to use genetic information to make employment decisions. Note that eligibility for TRICARE insurance is contingent upon employment by the military, and so genetic test results may affect one’s ability to access TRICARE insurance. 

Also, importantly, GINA does not apply to employers with fewer than 15 employees.

View the full text of  The Genetic Information Nondiscrimination Act of 2008, Public Law 110-223 .

GINA and Clinical Research

GINA has implications for individuals participating in research studies. The Office for Human Research Protections (OHRP) within HHS has issued  guidance on integrating GINA into clinical research , including information on GINA's research exemption, considerations for Institutional Review Boards, and integrating information on GINA into informed consent forms. To comply with GINA, informed consent forms should include information on any risks associated with participation in the research project and a statement describing how the confidentiality of records will be maintained. NHGRI has developed an  informed consent resource  for participants in genomics research.

Some workplaces implement wellness programs aiming to promote good health and disease prevention among employees. In exchange for participating in these wellness programs, employees may receive inducements in the form of discounts on employer-provided health insurance or extra paid leave, for example. An inducement may also be considered a penalty in certain circumstances; if employees participating in a wellness program do not provide certain types of information, they could see the cost of health insurance increase. Typically, wellness programs are run by third-party companies that collect employees' biometric data (e.g. weight, blood pressure, cholesterol levels) and use this information to design workplace interventions to improve health. Wellness programs might provide smokers with smoking cessation resources or recommend diet and exercise plans for individuals seeking to lose weight.

Since wellness programs involve the exchange of health information between employees and their employers, they are relevant to the enforcement of GINA in cases where wellness programs request genetic information from employees. Under GINA it is permissible for employers to request employees' genetic information for the purposes of voluntary wellness programs. However, employers cannot induce employees to provide their genetic information; this means that if an employee chooses to give genetic information to the wellness program, they cannot receive an additional reward for doing so. Conversely, if an employee chooses to withhold genetic information, they cannot be penalized.

Some interpreted GINA to be unclear about whether or not it is permissible to request the genetic information of employees' spouses and if employers may offer inducements in exchange for spouses' genetic information. According to GINA, the definition of "genetic information" includes health information of family members, which includes spouses.

On May 16, 2016, EEOC  amended  GINA regulations to provide clarification on the issue of spouses' genetic information. This amended rule states that it is permissible for wellness programs to offer limited inducements, in the form of a reward or penalty, in exchange for information about the manifestation of disease or disorders in spouses. Some argue that EEOC's ruling conflicts with GINA's definition of "genetic information" and that under GINA, should not be permissible for wellness programs to offer inducements for spouses' health information.

The maximum inducement that wellness programs may offer in exchange for employees' or their spouses' health information is 30 percent the cost of a self-only insurance plan (a plan that covers only one person). If both the employee and the spouse do not volunteer their health information, they could pay a combined 60 percent the cost of a self-only insurance plan on top of their current premium.

While EEOC's ruling amended GINA's treatment of wellness programs, it does not alter GINA's fundamental prohibition of employment discrimination based upon genetic information.

The Health Insurance Portability and Accountability Act

One part of Title I of GINA required HHS to amend the Health Insurance Portability and Accountability Act (HIPAA), which lays out privacy requirements for health information. The modification to HIPAA, made in 2013, states that genetic information is considered to be health information; therefore, it cannot be used by health insurers to make any decisions about health insurance benefits, eligibility for benefits, or the calculation of premiums under a health plan.

The Affordable Care Act

A major provision of  The Affordable Care Act of 2010 (ACA)  is to establish 'guaranteed issue'; issuers offering insurance in either the group or individual market must provide coverage for all individuals who request it. The law therefore prohibits issuers of health insurance from discriminating against patients with genetic diseases by refusing coverage because of 'pre-existing conditions'. ACA further provides additional protections for patients with genetic diseases by establishing that certain health insurers may only vary premiums based on a few specified factors such as age or geographic area, thereby prohibiting the adjustment of premiums because of medical conditions.

The Americans with Disabilities Act

The Americans with Disabilities Act (ADA)  prohibits discrimination in employment, public services, accommodations, and communications based on a disability. In 1995, EEOC issued an interpretation that discrimination based on genetic information relating to illness, disease, or other disorders is prohibited by the ADA. In a subsequent Senate hearing in 2000, EEOC Commissioner Paul Miller further affirmed that the ADA "can be interpreted to prohibit employment discrimination based on genetic information." However, these EEOC opinions are not legally binding, and whether the ADA protects against genetic discrimination in the workplace has never been tested in court.

On May 17, 2016, in conjunction with releasing amended regulations on GINA and wellness programs (see  "Employee Wellness Programs" ), EEOC amended ADA regulations to permit employers to offer inducements to employees who volunteer disability-related health information for the purposes of wellness programs. The amended ADA regulations also say that wellness programs may request medical examinations of participating employees. EEOC further stated that collecting disability-related information and requesting medical examinations for wellness programs would only be permissible provided that employers comply with existing nondiscrimination and nondisclosure protections dictated by ERISA and HIPAA. The permissibility of offering inducements in exchange for employees' health information is contingent upon the voluntary nature of wellness programs.

The ADA has been used to challenge genetic testing practices by an employer. In 2001, EEOC filed a suit against the Burlington Northern Santa Fe (BNSF) Railroad for secretly testing its employees for a rare genetic condition (hereditary neuropathy with liability to pressure palsies - HNPP) that causes carpal tunnel syndrome as one of its many symptoms. BNSF claimed that the testing was a way of determining whether the high incidence of repetitive-stress injuries among its employees was work-related. Besides testing for HNPP, company-paid doctors also were instructed to screen for several other medical conditions such as diabetes and alcoholism. EEOC and BNSF  announced a mediated settlement  in 2002.

A patchwork of state laws exists to protect Americans from genetic discrimination, although these laws vary widely in the scope, applicability, and amount of protection provided. GINA sets a floor of minimum protection against genetic discrimination and does not preempt state laws with stricter protections.

The earliest state laws focused on particular genetic conditions. For example, North Carolina was the first state to prohibit discrimination based on the presence of the sickle cell trait. In 1991, Wisconsin was the first state to prevent whole-sale discrimination based on genetic tests.

Some states have passed laws that go beyond the scope of GINA to prohibit genetic discrimination for "other insurances", including life insurance, disability insurance, and long-term care insurance. In 2011, California passed the "California Genetic Information Nondiscrimination Act" (CalGINA), which extended protections even further to prohibit genetic discrimination in emergency medical services, housing, mortgage lending, education, and other state-funded programs. You may visit the  Genome Statute and Legislation Database  to search for relevant state laws.

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• Published: 01 September 2001

What is genetic discrimination, and when and how can it be prevented?

• Mark A Rothstein 1 &
• Mary R Anderlik 1  

Genetics in Medicine volume  3 ,  pages 354–358 ( 2001 ) Cite this article

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The public policy debate concerning the desirability and scope of legislation prohibiting genetic discrimination has become increasingly volatile. Last year, a provocative opinion piece urging citizens to “gather courage to discriminate genetically” was widely syndicated 1 ; another commentator suggested that genetic discrimination is “both rational and inevitable.” 2 On the other hand, some prominent genetic scientists and legislators, as well as disease support groups, continue to make passage of laws with strong protections for affected individuals one of their top policy priorities. 3 , 4 Genetic researchers and clinicians need to recognize the unarticulated assumptions about discrimination that shape the debate and understand the underlying tensions between differing accounts of justice and fairness. In this article, we explore some of the nuances of the term discrimination and some of the sources of disagreement, before asking when and how genetic discrimination can be prevented.

What is discrimination?

The two most common uses of the term discrimination differ dramatically in the degree of disapproval they connote. On the one hand, the term discrimination may be used to indicate a type of distinction that invariably is or should be socially unacceptable. We refer to this as the civil rights definition. For example, the Council for Responsible Genetics position paper on genetic discrimination does not define the term discrimination, but the negative connotation is clear from its use. Discrimination is linked to evaluating people based on “questionable stereotypes” rather than their individual merits and abilities, invading people's privacy, the morally and publicly unacceptable stratification of the community into “haves” and “have-nots,” and the punishment of people for characteristics over which they have no control in violation of cherished beliefs in justice and equality. 5 The proper response to discrimination is legal prohibition.

On the other hand, the term discrimination may be used as an all-purpose descriptor for the practice of making distinctions. Further, some individuals and entities link social unacceptability with irrationality, that is, they believe that only irrational distinctions should be socially unacceptable. We refer to this as the actuarial definition. For example, in the insurance industry, the term discrimination is considered neutral and simply refers to classification for purposes of underwriting. On the industry view, discrimination only becomes problematic where there is no sound actuarial basis for the manner in which risks are classified, or individuals with equivalent risks are treated differently. 6 Often, in the business context, “irrational” means that the distinction cannot be defended in economic terms or, in the case of insurance, by reference to sound actuarial principles.

For both definitions, the term genetic discrimination also conveys that adverse treatment is based solely on the genotype of asymptomatic individuals. Differential treatment on the basis of phenotype is frequently rational and accepted as a social necessity, such as where an employer bases a hiring decision on a job-related need for visual acuity. Cases of adverse treatment based on the phenotypic expression of a genetic characteristic fit well within the analytical framework of laws dealing with disability-based or health status-based discrimination generally. The most important of these laws is the Americans with Disabilities Act. 7 To the contrary, cases of adverse treatment of phenotypically “normal” individuals fit poorly within the disability discrimination framework. A large majority of the public considers discrimination against these individuals as unfair because current opportunities are being denied to seemingly unaffected individuals merely because a genetic test or assessment indicates an increased risk of future incapacity.

We define discrimination as drawing a distinction among individuals or groups plus an element of either irrationality or social unacceptability or both. Our definition draws upon elements of both the civil rights and actuarial definitions. When discrimination is defined in this way, the term clearly has a negative connotation; discrimination is a bad thing. Even so, legal proscription of the classification may not be warranted. The appropriate legal and policy response to social unacceptability—a widely shared sense within a polity that some activity or state of affairs is “wrong”—will depend on the circumstances. In addition to or in lieu of legal prohibitions backed by criminal, civil, or administrative penalties are withdrawals of public funding, public condemnation, professional standards, and direct citizen action against the offending parties, for example, in the form of an economic boycott. Our definition recognizes that some forms of irrational discrimination are accepted, or at least tolerated, by society and some forms of discrimination are socially unacceptable, despite the fact that they are rational.

Table 1 illustrates the application of our definition of discrimination by indicating how a sample of selection criteria for employment would be arrayed along dimensions of social acceptability and rationality. Note that standards for judging social acceptability will vary according to the context. While employers are generally not prohibited from basing hiring decisions on Zodiac signs, even though this is clearly irrational, an insurer would have to offer some actuarial basis for the distinction in order to meet the requirements of state insurance laws. One justification for differences in the law of employment and insurance is that, in our society, there is no history of systematic mistreatment of Virgos relative to Capricorns in employment, and the costs of policing idiosyncratic factors in isolated hiring decisions would be very high. On the other hand, risk classification in insurance involves assigning individuals to risk pools; hence, insurance practices have the potential to create systematic mistreatment. Insurance underwriting policies also are more amenable to regulation than hiring decisions.

Historically, in insurance underwriting the law has mirrored the industry view that rational distinctions are acceptable. More recently, however, at least with respect to health insurance, this view is changing. In the United States, state laws prohibiting health insurers from gaining access to or using genetic information, and provisions of the Health Insurance Portability and Accountability Act (HIPAA) prohibiting employer-sponsored group health plans from using genetic information and other health-status related factors in underwriting, mark a significant expansion of the category of “rational but unacceptable.” 8 The change likely reflects consensus about the importance of access to health care. Proposals to restrict or eliminate genetic discrimination in other insurance products do not yet enjoy the same degree of support. 9 In countries that have universal access to health care, life insurance is now at the center of debate. 10 , 11

Why is it important to prevent (genetic) discrimination from the standpoint of ethics and policy?

We have offered a definition of discrimination and described some of the points of controversy. Now, we ask why it is important, in certain contexts, to place discrimination based on genetic characteristics in the bottom two quadrants of Table 1 , that is, the reasons for labeling some uses of genetic information as rational but unacceptable or both irrational and unacceptable. Although there are many approaches to ethics and policy, broad agreement exists on a number of basic principles. These basic principles include respect for autonomy, justice, and beneficence. 12 , 13

Autonomy refers to individual self-governance and includes the notion of respect for privacy. Autonomy is linked to the “idea of having a domain or territory of sovereignty for the self and a right to protect it.” 13 Privacy is an umbrella term that encompasses an assortment of rights, including the right to limit access to one's person (e.g., to be free of bodily incursions, to refuse to provide information), the right to be left alone, and the right to keep information that has been conveyed to another person from disclosure to a third party. How might the use of genetic information to discriminate among individuals or groups undermine autonomy? If third parties demand genetic testing or access to genetic information as a condition to the receipt of essential goods, such as a job or health care, individuals effectively lose control over access to their bodies (e.g., for blood tests). More importantly, they lose control over the generation and dissemination of personal information and its subsequent use to control them.

Of course, control is eroded every time an insurer demands a cholesterol test. Although some assert otherwise, 14 – 16 it is difficult to argue that genetic tests vary from cholesterol tests in kind . 17 Genetic tests are, however, at the far end of the spectrum of medical tests in terms of the sensitiveness of the data, their potential for misinterpretation, and their relevance to family members. An insurer that requires a young woman with a family history of Huntington disease to undergo genetic testing effectively requires her to know, many years in advance, that she will (in all likelihood) die at an early age of a terrible disease or that she has escaped that fate, a fact that may drive a wedge between her and other family members. An employer that screens its employees for BRCA1/2 mutations generates information that may have significant implications for the children of the employees. Beyond this, so long as classification on the basis of genetic information is permitted, the person who tests positive for a BRCA1/2 or Huntington disease mutation will find that his or her “domain of sovereignty” and range of opportunities have been sharply restricted. If some long-established practices encourage or tolerate coercive predictive medical testing, then it is time to revisit the acceptability of those practices.

There is wide agreement that justice requires that “like cases be treated alike.” However, this is a formal principle and leaves much to be determined. In discussions of discrimination in insurance based on genetic information, disagreement, and frequently, mutual incomprehension, mark exchanges between those committed to actuarial fairness and those committed to the view of fairness most closely associated with the philosopher John Rawls, who argued for “fair equality of opportunity” and for designing social institutions so that any inequalities work to the benefit of the least advantaged members of society. 18

It has been common practice for insurers to engage in risk classification, looking at characteristics such as age, individual and family health history, health status, occupation, serum cholesterol, and alcohol and tobacco use. Insurers view genetic information as simply “one additional factor” to be evaluated in the underwriting process. 6 For insurers, the key ethical consideration is a principle that might be stated as “groups with equal morbidity and mortality risk should be treated equally.” This principle supports the use of any means that will increase precision in classification. At the same time, it can be used against underwriting practices that are subjective, arbitrary, or unsupported by evidence. Many questions remain about the value of the results of currently available predictive genetic tests in underwriting. 19

Appeals to fairness to support a right of insurers to require genetic testing or gain access to results are frequently combined with expressions of concern about the financial viability of the insurance industry. Some argue that denying insurers access to information encourages moral hazard and adverse selection. 20 Moral hazard refers to the lessening of incentives to exercise care due to insurance. The concept has the most relevance to property insurance; logically, the effect will be weaker with goods, such as health or life, that are not easily replaced. Adverse selection refers to the disproportionately heavy purchase of insurance by high risk individuals when rates are not adjusted for risk. Insurers assume that individuals who learn that they are at high risk for disease, disability, and/or early death through confidential genetic testing will “load up” on insurance. Concerns about adverse selection are greatest in relation to life insurance, because there is no natural limit on payouts, and because the product is regarded as more discretionary than health insurance. Hence, it is significant that a recent study found little evidence that confidentiality protections for predictive genetic testing lead to adverse selection in life insurance. 21 One logical policy response to legitimate, if unsubstantiated, fears of exploitation would be a cap on the amount of life insurance that can be purchased without medical underwriting.

The burden of administration is another important economic consideration. Insurers already cover many people who have genetic disorders or predispositions to disease. 19 If a result of the drive for greater precision in underwriting is to increase premiums for some existing insureds and decrease premiums for other existing insureds for policies of similar amounts, it is difficult to justify the administrative costs associated with genetic underwriting. The analysis will vary by type of insurance. 22

The Rawlsian approach to justice begins, not with custom or economics, but with the idea of a level playing field and a belief that society should not allow people's prospects to be governed by “morally arbitrary” differences such as genetic factors related to disease and disability. 23 , 24 On this view, broader social goals and an individual's degree of control over the characteristic that serves as the basis for discrimination matter in ethical and policy analysis. No contemporary, developed society operates on the principle that all individual differences can be a moral basis for advantage or disadvantage. In the United States, we generally disallow the use of race as a basis for decision making in employment, insurance, and other areas, without regard to rationality (e.g., relationship to life expectancy). On the other hand, we allow individuals to capitalize on educational attainment in the employment arena and to suffer penalties for tobacco use in the area of insurance.

Most work on genetics and justice has focused on health insurance, because health has a strong relationship to equality of opportunity, and because there is something troubling about making health insurance inaccessible when it is most needed. The big questions down the road will be whether restrictions on the use of predictive information should be strengthened and extended beyond the health insurance context, and whether identification of genetic correlates of behavior such as smoking will result in a re-drawing of the line between acceptable and unacceptable bases of classification. At present, there is little evidence that the use of predictive genetic information in insurance underwriting, especially as to complex disorders, can meet either the standards of Rawlsian fairness or actuarial fairness.

Beneficence

Beneficence has been described as the “obligation to help others further their important and legitimate interests.” 13 In policy making, beneficence requires consideration of the consequences of social practices. What are the consequences of allowing employers and insurers to obtain and use genetic information? Nearly two-thirds of respondents in a 1997 survey reported that they would not undergo genetic testing if employers and health insurers would have access to the results, and a 1995 Harris poll found that over 85% of respondents were very or somewhat concerned about access to and use of genetic information by employers and insurers. 25 These data suggest that, absent legal protections against genetic discrimination, many individuals will refuse testing and will fail to take advantage of available interventions that might lower the morbidity and mortality associated with genetic disorders. Individuals may also decline to participate in research that might result in advances in the treatment of genetic conditions if they cannot be assured of confidentiality. The individual and public health costs are likely to be enormous.

To date, the evidence of genetic discrimination has been anecdotal 26 , 27 or derived from studies with methodological weaknesses such as reliance on self-report. 28 Hence, a recent study combining in-person interviews with health insurers and a direct market test has attracted considerable attention. 29 To the surprise of some, the investigators found that a person with a serious genetic condition but asymptomatic for disease would have little or no difficulty obtaining individual health insurance under current market conditions. They also concluded that there was no significant association between the degree of difficulty in obtaining insurance and the existence or absence of a state law regulating the use of genetic information. While these data may reassure patients worried about losing their health insurance, particularly if they are considering testing for the BRCA1 or BRCA2 mutations, other risks are not addressed, such as the risk of discrimination in life insurance or employment. Further, the finding that there is no widespread genetic discrimination in health insurance at present does not necessarily undermine the case for regulation. In the interviews, a general sense of legal and social disapproval emerged as an important consideration in insurers' decisions not to inquire about or require genetic testing.

Why a focus on “genetic” discrimination is not workable

There are good ethical reasons for preventing genetic discrimination. On the other hand, considerations of justice weigh against treating genetic discrimination differently from other forms of health status-based discrimination. There are also many practical considerations that weigh against separate treatment of genetic information. Three have become increasingly obvious over time: (1) We can't define “genetic”; (2) Even if we could define genetic, it is not feasible to separate genetic information from other health information; (3) Separate treatment increases the stigma attached to genetic conditions and lends legitimacy to genetic reductionism and determinism.

We can't define genetic

Discussions of genetic discrimination often note the line-drawing problems associated with the word “genetic.” Is a family medical history “genetic” information? Is breast cancer a “genetic” disease? Is a sweat chloride test for cystic fibrosis a “genetic” test? A great deal of information concerning inherited genetic disorders can be derived from family history. Yet, state laws may define genetic information as including only information derived from laboratory tests. Narrow definitions also fail to protect information about genetic services, for example, whether an individual has ever undergone genetic testing or has participated in genetic research.

Monogenic disorders, in which the condition is caused by a single gene, are certainly genetic conditions. However, it is less clear that diagnostic tests analyzing proteins and other gene products are genetic tests under laws that apply to “direct” tests for abnormalities, defects, or deficiencies in genetic material, and expressly exclude tests for indirect manifestations of genetic disorders (e.g., Colorado, Indiana, Kansas, Ohio). Problems of definition will be exacerbated as genetic research turns increasingly to complex disorders. Scientists can be expected to identify a genetic component of numerous health problems. Researchers have already discovered a genetic contribution to some forms of diabetes, hypertension, hypercholesterolemia, epilepsy, osteoporosis, and various cancers. Because these and similar complex or multifactorial disorders are likely to be the main focus of future genetic inquiries in clinical and other settings, a DNA-based definition of “genetic” would be demonstrably underinclusive. Yet a more comprehensive definition would include virtually all medical conditions.

Even if we could define genetic, it is not feasible to separate genetic information from other health information

In most medical records, information about family history and similar matters is interspersed with other kinds of information. Editing or otherwise expunging genetic information from the patient's medical record before releasing it to authorized third parties would be burdensome and impractical. (By comparison, the results of HIV testing are fairly easy to isolate in the medical record.) Attempting to isolate genetic information so that, for example, only nongenetic information is maintained in patient records, might also compromise the quality of patient care, by impeding the access of health care professionals to this clinically significant information. Third parties such as employers and insurers will not be the only ones affected.

Separate treatment increases the stigma attached to genetic conditions and lends legitimacy to genetic reductionism and determinism

Separate treatment increases the stigma of genetic conditions. People may believe that because genetic conditions are singled out for protection, they must be particularly shameful. Separate treatment also encourages genetic reductionism, whereby all traits, health problems, and behaviors are attributed to genes, without regard to other factors. Genetic determinism is the belief that an individual's future “is defined and predicted by genetic make up and cannot be changed.” 30 Separate treatment suggests that genetic information is wholly unlike other kinds of health information and that genetic conditions are wholly unlike other kinds of health conditions.

Why lawmakers nevertheless focus on “genetic” discrimination

Although a focus on genetic discrimination is not workable, U.S. lawmakers continue to introduce, and frequently pass, bills that single out genetic information for special protections. A number of explanations can be offered for this behavior. The first is ignorance. Some lawmakers may simply fail to grasp the practical problems reviewed in the preceding section. Another factor may be the lobbying efforts of genetic advocacy groups. Many are highly effective in representing their constituencies. Yet, it is not clear whether the strategy of promoting “genetic” legislation is efficacious, tactically sound, or ethical when these laws have so little value to those at risk of genetic disorders (because they protect only asymptomatic individuals) and no value to those who have illnesses from other causes. The most important factor behind the focus on genetic discrimination may be political reality. Efforts to pass more comprehensive legislation protecting the privacy of health information and eliminating the potential for discrimination on the basis of health information, through universal coverage, have failed—so far. Although genetic discrimination may be a more manageable target, enactment of such legislation may give the misleading impression that the issue of health discrimination has been addressed, thereby further delaying enactment of more meaningful reforms.

Conclusion: Why the problem is not amenable to a quick fix or single statutory measure

The potential for genetic discrimination extends to every social domain. This includes commercial transactions where one party has an economic interest in the future health of the other party (e.g., mortgages, commercial loans). It also includes the diverse noneconomic area, where there is interest in explaining or predicting an individual's current or future health (e.g., child custody, personal injury law) or behavior (e.g., schools, criminal law). 31

Any effort to address genetic discrimination inevitably implicates broader and extremely contentious issues, such as the right to health care. 32 If we wish to eliminate genetic discrimination in health insurance without creating questionable distinctions between genetic and other conditions, and without risking system collapse through adverse selection, we need to work toward mandatory participation, guaranteed issue and renewal, community-rated health insurance. If we wish to eliminate genetic discrimination in employment, without endorsing questionable distinctions, and without risking a system in which protections against discrimination are vitiated by ease of access to information and the difficulties involved in policing its use, we need to prohibit employers from obtaining all non-job-related medical information.

Short of these kinds of fundamental reforms, there are some incremental reforms that will partially address the problem of genetic discrimination. Relying on the preceding discussion, we propose three policy guides. First, it is appropriate and necessary to use law and other means of implementing public policy to end irrational discrimination, except where its effects are trivial (the hiring-by-Zodiac case) and the costs of regulation are high. Second, commitments to autonomy, justice, and beneficence may justify regulation of discrimination even where it is in some sense rational. Third, generic approaches are preferable to genetic ones.

Limited measures are not valueless. Still, given the pace of progress in the field of genetics and the likely ubiquitous nature of genetic information in medical records and elsewhere, we will soon reach a point where we will be forced to address the more fundamental issues.

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The information in this article is provided as an educational resource for geneticists to make them aware of relevant new developments in the law. It is not intended as, and should not be considered, legal advice. Adherence to any information or suggestions contained in the article is strictly voluntary and does not ensure compliance with legal requirements, and the authors of the article and the editors and publishers of Genetics in Medicine expressly disclaim any responsibility or liability therefor. If you have specific questions regarding the information discussed in the article, please seek the advice of your legal counsel.

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Rothstein, M., Anderlik, M. What is genetic discrimination, and when and how can it be prevented?. Genet Med 3 , 354–358 (2001). https://doi.org/10.1097/00125817-200109000-00005

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