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Nature Genetics volume 56 , pages 752–757 ( 2024 ) Cite this article
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Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine.
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We thank the attendees of the Future Directions in Genomics and Health Equity Workshop, the NHGRI Training, Diversity and Health Equity Office and the NHGRI Office of Communication for their expertise, assistance and thoughtful perspectives and recommendations.
Authors and affiliations.
Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA
Ebony B. Madden, Lucia A. Hindorff, Vence L. Bonham, Valentina Di Francesco, Amber Jackson, Nicole C. Lockhart, Jennifer L. Troyer & Eric D. Green
Department of Community Health and Preventative Medicine, Morehouse School of Medicine, Atlanta, GA, USA
Tabia Henry Akintobi
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA
Esteban G. Burchard
Whitman-Walker Institute, Washington, DC, USA
Kellan E. Baker
Centers for American Indian and Alaska Native Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA
Rene L. Begay
Comprehensive Cancer Center, City of Hope, Duarte, CA, USA
John D. Carpten
Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA
Nancy J. Cox
Department of Medical Education and Clinical Sciences, Washington State University College of Medicine, Seattle, WA, USA
Denise A. Dillard
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA
Faith E. Fletcher
Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA
Stephanie M. Fullerton
Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA
Nanibaa’ A. Garrison
Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA, USA
Division of General Internal Medicine and Health Services Research, UCLA David Geffen School of Medicine, Los Angeles, CA, USA
Department of Health Policy, Vanderbilt University, Nashville, TN, USA
Catherine M. Hammack-Aviran
Center for Human Development, University of Alaska Anchorage, Anchorage, AK, USA
Vanessa Y. Hiratsuka
Meharry Medical College, Nashville, TN, USA
James E. K. Hildreth
Icahn School of Medicine at Mount Sinai, New York, NY, USA
Carol R. Horowitz & Judy H. Cho
Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA
Chanita A. Hughes Halbert
Department of Public Health and Primary Care, University of Cambridge Victor Phillip Dahdaleh Heart and Lung Research Institute, Cambridge, UK
Michael Inouye
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
Latrice G. Landry
Morehouse School of Medicine, Atlanta, GA, USA
Rick A. Kittles
Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA, USA
Jeff T. Leek
Department of Neurology, University of Alabama, Birmingham School of Medicine, Birmingham, AL, USA
Nita A. Limdi
Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA
Elizabeth O. Ofili
National Institute on Minority Health and Health Disparities, Bethesda, MD, USA
Eliseo J. Pérez-Stable
Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA
Maya Sabatello
Department of Medical Humanities and Ethics, Columbia University, New York, NY, USA
Maya Sabatello & Sandra S.-J. Lee
Department of Public Health Sciences, The University of Chicago, Chicago, IL, USA
Loren Saulsberry
Common Fund, National Institutes of Health, Bethesda, MD, USA
Lorjetta E. Schools
Department of Pediatrics, University of Washington, Seattle, WA, USA
Benjamin S. Wilfond
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA
Genevieve L. Wojcik
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E.B.M. took the lead in writing the manuscript with input from all authors. V.L.B., E.D.G., E.J.P.-S., L.A.H. and S.S.-J.L. made major contributions and performed critical revisions to the manuscript. R.L.B., N.C.L. and M.S. have given critical feedback and edits to the manuscript. T.H.A., K.E.B., E.G.B., J.D.C., N.J.C., V.D.F., D.A.D., F.E.F., S.M.F., N.A.G., V.Y.H., C.M.H.-A., J.E.H., C.R.H., C.A.H.H., M.I., A.J., R.A.K., L.G.L., J.T.L., N.A.L., E.O.O., L.S., L.E.S., J.L.T., B.S.W., G.L.W. and J.H.C. made content recommendations that helped shape the manuscript. All authors provided critical feedback and helped shape the manuscript.
R.L.B. and N.A.G. are members of the Diné tribe. D.A.D. is a member of the Eskimo tribe. V.Y.H. is a member of the Navajo and Wintu tribes.
Correspondence to Ebony B. Madden .
Competing interests.
M.S. is a member of the Institutional Review Board for the All of Us Research Program. M.I. is a trustee of the Public Health Genomics Foundation, is a member of the Scientific Advisory Board of Open Targets and has research collaborations with AstraZeneca, Nightingale Health and Pfizer (unrelated to the work of this article). All other authors confirm that there are no financial or nonfinancial interests that may bias the conclusions, implications or opinions stated.
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Nature Genetics thanks Alice Popejoy and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.
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Cite this article.
Madden, E.B., Hindorff, L.A., Bonham, V.L. et al. Advancing genomics to improve health equity. Nat Genet 56 , 752–757 (2024). https://doi.org/10.1038/s41588-024-01711-z
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Received : 20 June 2023
Accepted : 08 March 2024
Published : 29 April 2024
Issue Date : May 2024
DOI : https://doi.org/10.1038/s41588-024-01711-z
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