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.
This is a preview of subscription content, access via your institution
Access options
Access Nature and 54 other Nature Portfolio journals
Get Nature+, our best-value online-access subscription
$29.99 / 30 days
cancel any time
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Carnethon, M. R., Kershaw, K. N. & Kandula, N. R. Disparities research, disparities researchers, and health equity. JAMA 323, 211–212 (2020).
Gomez, C. A. et al. Addressing health equity and social determinants of health through Healthy People 2030. J. Public Health Manag. Pract. 27, S249–S257 (2021).
Westfall, J. M., Roper, R., Gaglioti, A. & Nease, D. E. Jr. Practice-based research networks: strategic opportunities to advance implementation research for health equity. Ethn. Dis. 29, 113–118 (2019).
Jooma, S., Hahn, M. J., Hindorff, L. A. & Bonham, V. L. Defining and achieving health equity in genomic medicine. Ethn. Dis. 29, 173–178 (2019).
Bonham, V. L. Examining how race, ethnicity, and ancestry data are used in biomedical research. JAMA 320, 1533–1534 (2018).
Saunkeah, B., Beans, J. A., Peercy, M. T., Hiratsuka, V. Y. & Spicer, P. Extending research protections to tribal communities. Am. J. Bioeth. 21, 5–12 (2021).
McDonald, K. E., Schwartz, A. E. & Sabatello, M. Eligibility criteria in NIH-funded clinical trials: can adults with intellectual disability get in? Disabil. Health J. 15, 101368 (2022).
Dickson, E. et al. Characteristics and practices within research partnerships for health and social equity. Nurs. Res. 69, 51–61 (2020).
Castillo, E. G. & Harris, C. Directing research toward health equity: a health equity research impact assessment. J. Gen. Intern. Med. 36, 2803–2808 (2021).
Horowitz, C. R. et al. Race, genomics and chronic disease: what patients with African ancestry have to say. J. Health Care Poor Underserved 28, 248–260 (2017).
O’Daniel, J. M. et al. Integration of stakeholder engagement from development to dissemination in genomic medicine research: approaches and outcomes from the CSER Consortium. Genet. Med. 24, 1108–1119 (2022).
Liburd, L. C. et al. Addressing health equity in public health practice: frameworks, promising strategies, and measurement considerations. Annu. Rev. Public Health 41, 417–432 (2020).
Krieger, N. Measures of racism, sexism, heterosexism, and gender binarism for health equity research: from structural injustice to embodied harm—an ecosocial analysis. Annu. Rev. Public Health 41, 37–62 (2020).
Dover, D. C. & Belon, A. P. The health equity measurement framework: a comprehensive model to measure social inequities in health. Int. J. Equity Health 18, 36 (2019).
Penman-Aguilar, A. et al. Measurement of health disparities, health inequities, and social determinants of health to support the advancement of health equity. J. Public Health Manag. Pract. 22, S33–S42 (2016).
Braveman, P. et al. What is health equity? Behav. Sci. Policy 4, 1–14 (2018).
Byeon, Y. J. J. et al. Evolving use of ancestry, ethnicity, and race in genetics research—a survey spanning seven decades. Am. J. Hum. Genet. 108, 2215–2223 (2021).
Mulder, N. J. et al. Development of bioinformatics infrastructure for genomics research. Glob. Heart. 12, 91–98 (2017).
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
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
Ethics declarations
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.
Peer review
Peer review information
Nature Genetics thanks Alice Popejoy and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.
Additional information
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41588-024-01711-z
