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  • Perspective
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Advancing genomics to improve health equity


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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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.

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Authors and Affiliations



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.

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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.

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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).

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