Advancing genomics to improve health equity

doi:10.1038/s41588-024-01711-z

Review

. 2024 May;56(5):752-757.

doi: 10.1038/s41588-024-01711-z. Epub 2024 Apr 29.

Advancing genomics to improve health equity

Ebony B Madden¹, Lucia A Hindorff², Vence L Bonham², Tabia Henry Akintobi³, Esteban G Burchard⁴, Kellan E Baker⁵, Rene L Begay⁶, John D Carpten⁷, Nancy J Cox⁸, Valentina Di Francesco², Denise A Dillard⁹, Faith E Fletcher¹⁰, Stephanie M Fullerton¹¹, Nanibaa' A Garrison^{12

13

14}, Catherine M Hammack-Aviran¹⁵, Vanessa Y Hiratsuka¹⁶, James E K Hildreth¹⁷, Carol R Horowitz¹⁸, Chanita A Hughes Halbert¹⁹, Michael Inouye²⁰, Amber Jackson², Latrice G Landry²¹, Rick A Kittles²², Jeff T Leek²³, Nita A Limdi²⁴, Nicole C Lockhart², Elizabeth O Ofili²⁵, Eliseo J Pérez-Stable²⁶, Maya Sabatello^{27

28}, Loren Saulsberry²⁹, Lorjetta E Schools³⁰, Jennifer L Troyer², Benjamin S Wilfond³¹, Genevieve L Wojcik³², Judy H Cho¹⁸, Sandra S-J Lee²⁸, Eric D Green²

Affiliations

¹ Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA. ebony.madden@nih.gov.
² Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA.
³ Department of Community Health and Preventative Medicine, Morehouse School of Medicine, Atlanta, GA, USA.
⁴ Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
⁵ Whitman-Walker Institute, Washington, DC, USA.
⁶ Centers for American Indian and Alaska Native Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
⁷ Comprehensive Cancer Center, City of Hope, Duarte, CA, USA.
⁸ Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
⁹ Department of Medical Education and Clinical Sciences, Washington State University College of Medicine, Seattle, WA, USA.
¹⁰ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
¹¹ Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA.
¹² Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
¹³ Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA, USA.
¹⁴ Division of General Internal Medicine and Health Services Research, UCLA David Geffen School of Medicine, Los Angeles, CA, USA.
¹⁵ Department of Health Policy, Vanderbilt University, Nashville, TN, USA.
¹⁶ Center for Human Development, University of Alaska Anchorage, Anchorage, AK, USA.
¹⁷ Meharry Medical College, Nashville, TN, USA.
¹⁸ Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁹ Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA.
²⁰ Department of Public Health and Primary Care, University of Cambridge Victor Phillip Dahdaleh Heart and Lung Research Institute, Cambridge, UK.
²¹ Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
²² Morehouse School of Medicine, Atlanta, GA, USA.
²³ Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA, USA.
²⁴ Department of Neurology, University of Alabama, Birmingham School of Medicine, Birmingham, AL, USA.
²⁵ Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA.
²⁶ National Institute on Minority Health and Health Disparities, Bethesda, MD, USA.
²⁷ Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA.
²⁸ Department of Medical Humanities and Ethics, Columbia University, New York, NY, USA.
²⁹ Department of Public Health Sciences, The University of Chicago, Chicago, IL, USA.
³⁰ Common Fund, National Institutes of Health, Bethesda, MD, USA.
³¹ Department of Pediatrics, University of Washington, Seattle, WA, USA.
³² Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

PMID: 38684898
PMCID: PMC11096049
DOI: 10.1038/s41588-024-01711-z

Review

Advancing genomics to improve health equity

Ebony B Madden et al. Nat Genet. 2024 May.

. 2024 May;56(5):752-757.

doi: 10.1038/s41588-024-01711-z. Epub 2024 Apr 29.

Authors

Affiliations

¹ Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA. ebony.madden@nih.gov.
² Office of the Director, National Human Genome Research Institute, Bethesda, MD, USA.
³ Department of Community Health and Preventative Medicine, Morehouse School of Medicine, Atlanta, GA, USA.
⁴ Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
⁵ Whitman-Walker Institute, Washington, DC, USA.
⁶ Centers for American Indian and Alaska Native Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
⁷ Comprehensive Cancer Center, City of Hope, Duarte, CA, USA.
⁸ Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
⁹ Department of Medical Education and Clinical Sciences, Washington State University College of Medicine, Seattle, WA, USA.
¹⁰ Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA.
¹¹ Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA.
¹² Institute for Society and Genetics, University of California, Los Angeles, Los Angeles, CA, USA.
¹³ Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA, USA.
¹⁴ Division of General Internal Medicine and Health Services Research, UCLA David Geffen School of Medicine, Los Angeles, CA, USA.
¹⁵ Department of Health Policy, Vanderbilt University, Nashville, TN, USA.
¹⁶ Center for Human Development, University of Alaska Anchorage, Anchorage, AK, USA.
¹⁷ Meharry Medical College, Nashville, TN, USA.
¹⁸ Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁹ Department of Population and Public Health Sciences, University of Southern California, Los Angeles, CA, USA.
²⁰ Department of Public Health and Primary Care, University of Cambridge Victor Phillip Dahdaleh Heart and Lung Research Institute, Cambridge, UK.
²¹ Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
²² Morehouse School of Medicine, Atlanta, GA, USA.
²³ Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA, USA.
²⁴ Department of Neurology, University of Alabama, Birmingham School of Medicine, Birmingham, AL, USA.
²⁵ Department of Medicine, Morehouse School of Medicine, Atlanta, GA, USA.
²⁶ National Institute on Minority Health and Health Disparities, Bethesda, MD, USA.
²⁷ Center for Precision Medicine and Genomics, Columbia University, New York, NY, USA.
²⁸ Department of Medical Humanities and Ethics, Columbia University, New York, NY, USA.
²⁹ Department of Public Health Sciences, The University of Chicago, Chicago, IL, USA.
³⁰ Common Fund, National Institutes of Health, Bethesda, MD, USA.
³¹ Department of Pediatrics, University of Washington, Seattle, WA, USA.
³² Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

PMID: 38684898
PMCID: PMC11096049
DOI: 10.1038/s41588-024-01711-z

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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Conflict of interest statement

Competing Interest Statement: 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 (PHG) Foundation, member of the Scientific Advisory Board of Open Targets, and has research collaborations with AstraZeneca, Nightingale Health, and Pfizer (unrelated to the work of the manuscript). All other authors confirm that there are no financial or non-financial interests that may bias the conclusions, implications, or opinions stated.

Figures

**Figure 1.**
Elements Needed to Increase Health Equity in Genomics Courtesy: National Human Genome Research Institute: www.genome.gov Created by Darryl Leja, NHGRI This figure includes graphical illustrations of the elements needed to increase health equity in genomics: measuring health equity, policy development, equitable participation, diversity of the genomics workforce, and partnerships.

See this image and copyright information in PMC

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References

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1. Gomez CA Dushanka, Kleinman V, Pronk N, Wrenn Gordon GL, Ochiai E, Blakey C, Johnson A, & Brewer KH Addressing Health Equity and Social Determinants of Health Through Healthy People 2030. J of Public Health Manag Pract 27, S249–S257 (2021). - PMC - PubMed
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[1] Carnethon MR, Kershaw KN, & Kandula NR Disparities Research, Disparities Researchers, and Health Equity. JAMA 323, 3 (2020). - PubMed

[2] Carnethon MR, Kershaw KN, & Kandula NR Disparities Research, Disparities Researchers, and Health Equity. JAMA 323, 3 (2020). - PubMed

[3] Gomez CA Dushanka, Kleinman V, Pronk N, Wrenn Gordon GL, Ochiai E, Blakey C, Johnson A, & Brewer KH Addressing Health Equity and Social Determinants of Health Through Healthy People 2030. J of Public Health Manag Pract 27, S249–S257 (2021). - PMC - PubMed

[4] Gomez CA Dushanka, Kleinman V, Pronk N, Wrenn Gordon GL, Ochiai E, Blakey C, Johnson A, & Brewer KH Addressing Health Equity and Social Determinants of Health Through Healthy People 2030. J of Public Health Manag Pract 27, S249–S257 (2021). - PMC - PubMed

[5] Westfall JM, Roper R Gaglioti A, & Nease DE Jr. Practice-based Research Networks: Strategic Opportunities to Advance Implementation Research for Health Equity. Ethnicity & Disease, 29 (Suppl 1), 113–118 (2019). - PMC - PubMed

[6] Westfall JM, Roper R Gaglioti A, & Nease DE Jr. Practice-based Research Networks: Strategic Opportunities to Advance Implementation Research for Health Equity. Ethnicity & Disease, 29 (Suppl 1), 113–118 (2019). - PMC - PubMed

[7] Jooma S, Hahn MJ, Hindorff LA & Bonham VL Defining and Achieving Health Equity in Genomic Medicine. Ethnicity & Disease 29 (Suppl 1):173–178 (2019). - PMC - PubMed

[8] Jooma S, Hahn MJ, Hindorff LA & Bonham VL Defining and Achieving Health Equity in Genomic Medicine. Ethnicity & Disease 29 (Suppl 1):173–178 (2019). - PMC - PubMed

[9] Bonham VL Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research. JAMA 320 (15), 1533–1534 (2018). - PMC - PubMed

[10] Bonham VL Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research. JAMA 320 (15), 1533–1534 (2018). - PMC - PubMed

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Advancing genomics to improve health equity

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Advancing genomics to improve health equity

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