Advancing genomics to improve health equity

Ebony B Madden; Lucia A Hindorff; Vence L Bonham; Tabia Henry Akintobi; Esteban G Burchard; Kellan E Baker; Rene L Begay; John D Carpten; Nancy J Cox; Valentina Di Francesco; Denise A Dillard; Faith E Fletcher; Stephanie M Fullerton; Nanibaa' A Garrison; Catherine M Hammack-Aviran; Vanessa Y Hiratsuka; James E K Hildreth; Carol R Horowitz; Chanita A Hughes Halbert; Michael Inouye; Amber Jackson; Latrice G Landry; Rick A Kittles; Jeff T Leek; Nita A Limdi; Nicole C Lockhart; Elizabeth O Ofili; Eliseo J Pérez-Stable; Maya Sabatello; Loren Saulsberry; Lorjetta E Schools; Jennifer L Troyer; Benjamin S Wilfond; Genevieve L Wojcik; Judy H Cho; Sandra S-J Lee; Eric D Green

doi:10.1038/s41588-024-01711-z

Advancing genomics to improve health equity

Nat Genet. 2024 May;56(5):752-757. doi: 10.1038/s41588-024-01711-z. Epub 2024 Apr 29.

Authors

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.

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.

Publication types

Review

MeSH terms

Genome, Human
Genomics* / methods
Health Equity*
Humans
National Human Genome Research Institute (U.S.)
United States

Grants and funding

Z99 HG999999/ImNIH/Intramural NIH HHS/United States