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  • Perspective
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Advancing genomics to improve health equity

Nature Genetics volume 56, pages 752–757 (2024)Cite this article

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Abstract

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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Fig. 1: Elements needed to increase health equity in genomics.

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Acknowledgements

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.

Author information

Authors and Affiliations

  1. 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

  2. Department of Community Health and Preventative Medicine, Morehouse School of Medicine, Atlanta, GA, USA

    Tabia Henry Akintobi

  3. Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA

    Esteban G. Burchard

  4. Whitman-Walker Institute, Washington, DC, USA

    Kellan E. Baker

  5. Centers for American Indian and Alaska Native Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA

    Rene L. Begay

  6. Comprehensive Cancer Center, City of Hope, Duarte, CA, USA

    John D. Carpten

  7. Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA

    Nancy J. Cox

  8. Department of Medical Education and Clinical Sciences, Washington State University College of Medicine, Seattle, WA, USA

    Denise A. Dillard

  9. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA

    Faith E. Fletcher

  10. Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA

    Stephanie M. Fullerton

  11. Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA

    Nanibaa’ A. Garrison

  12. Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA, USA

    Nanibaa’ A. Garrison

  13. Division of General Internal Medicine and Health Services Research, UCLA David Geffen School of Medicine, Los Angeles, CA, USA

    Nanibaa’ A. Garrison

  14. Department of Health Policy, Vanderbilt University, Nashville, TN, USA

    Catherine M. Hammack-Aviran

  15. Center for Human Development, University of Alaska Anchorage, Anchorage, AK, USA

    Vanessa Y. Hiratsuka

  16. Meharry Medical College, Nashville, TN, USA

    James E. K. Hildreth

  17. Icahn School of Medicine at Mount Sinai, New York, NY, USA

    Carol R. Horowitz & Judy H. Cho

  18. Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA

    Chanita A. Hughes Halbert

  19. Department of Public Health and Primary Care, University of Cambridge Victor Phillip Dahdaleh Heart and Lung Research Institute, Cambridge, UK

    Michael Inouye

  20. Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Latrice G. Landry

  21. Morehouse School of Medicine, Atlanta, GA, USA

    Rick A. Kittles

  22. Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA, USA

    Jeff T. Leek

  23. Department of Neurology, University of Alabama, Birmingham School of Medicine, Birmingham, AL, USA

    Nita A. Limdi

  24. Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA

    Elizabeth O. Ofili

  25. National Institute on Minority Health and Health Disparities, Bethesda, MD, USA

    Eliseo J. Pérez-Stable

  26. Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA

    Maya Sabatello

  27. Department of Medical Humanities and Ethics, Columbia University, New York, NY, USA

    Maya Sabatello & Sandra S.-J. Lee

  28. Department of Public Health Sciences, The University of Chicago, Chicago, IL, USA

    Loren Saulsberry

  29. Common Fund, National Institutes of Health, Bethesda, MD, USA

    Lorjetta E. Schools

  30. Department of Pediatrics, University of Washington, Seattle, WA, USA

    Benjamin S. Wilfond

  31. Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA

    Genevieve L. Wojcik

Authors
  1. Ebony B. Madden
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  2. Lucia A. Hindorff
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  3. Vence L. Bonham
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  4. Tabia Henry Akintobi
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  5. Esteban G. Burchard
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  6. Kellan E. Baker
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  7. Rene L. Begay
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  8. John D. Carpten
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  9. Nancy J. Cox
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  10. Valentina Di Francesco
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  11. Denise A. Dillard
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  12. Faith E. Fletcher
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  13. Stephanie M. Fullerton
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  14. Nanibaa’ A. Garrison
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  15. Catherine M. Hammack-Aviran
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  16. Vanessa Y. Hiratsuka
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  17. James E. K. Hildreth
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  18. Carol R. Horowitz
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  19. Chanita A. Hughes Halbert
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  20. Michael Inouye
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  21. Amber Jackson
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  22. Latrice G. Landry
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  23. Rick A. Kittles
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  24. Jeff T. Leek
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  25. Nita A. Limdi
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  26. Nicole C. Lockhart
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  27. Elizabeth O. Ofili
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  28. Eliseo J. Pérez-Stable
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  29. Maya Sabatello
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  30. Loren Saulsberry
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  31. Lorjetta E. Schools
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  32. Jennifer L. Troyer
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  33. Benjamin S. Wilfond
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  34. Genevieve L. Wojcik
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  35. Judy H. Cho
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  36. Sandra S.-J. Lee
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  37. Eric D. Green
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Contributions

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.

Positionality statement:

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.

Corresponding author

Correspondence to Ebony B. Madden.

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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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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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  • DOI: https://doi.org/10.1038/s41588-024-01711-z

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