Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds

Ying Wang; Yixuan He; Yue Shi; David C Qian; Kathryn J Gray; Robert Winn; Alicia R Martin

doi:10.1016/j.ajhg.2024.04.002

Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds

Am J Hum Genet. 2024 May 2;111(5):809-824. doi: 10.1016/j.ajhg.2024.04.002. Epub 2024 Apr 19.

Authors

Ying Wang¹, Yixuan He², Yue Shi³, David C Qian⁴, Kathryn J Gray⁵, Robert Winn⁶, Alicia R Martin⁷

Affiliations

¹ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: yiwang@broadinstitute.org.
² Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
³ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Reproductive Medicine Center, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong 510080, China.
⁴ Department of Thoracic Radiation Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
⁵ Department of Obstetrics and Gynecology, University of Washington, Seattle, WA, USA.
⁶ Virginia Commonwealth University Massey Cancer Center, Richmond, VA, USA.
⁷ Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: armartin@broadinstitute.org.

PMID: 38642557
PMCID: PMC11080611 (available on 2024-11-02)
DOI: 10.1016/j.ajhg.2024.04.002

Abstract

Advancements in genomic technologies have shown remarkable promise for improving health trajectories. The Human Genome Project has catalyzed the integration of genomic tools into clinical practice, such as disease risk assessment, prenatal testing and reproductive genomics, cancer diagnostics and prognostication, and therapeutic decision making. Despite the promise of genomic technologies, their full potential remains untapped without including individuals of diverse ancestries and integrating social determinants of health (SDOHs). The NHGRI launched the 2020 Strategic Vision with ten bold predictions by 2030, including "individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics." Meeting this goal requires a holistic approach that brings together genomic advancements with careful consideration to healthcare access as well as SDOHs to ensure that translation of genetics research is inclusive, affordable, and accessible and ultimately narrows rather than widens health disparities. With this prediction in mind, this review delves into the two paramount applications of genetic testing-reproductive genomics and precision oncology. When discussing these applications of genomic advancements, we evaluate current accessibility limitations, highlight challenges in achieving representativeness, and propose paths forward to realize the ultimate goal of their equitable applications.

Keywords: SDOH; carrier screening; cell-free DNA screening; cfDNA screening; diversity; genetic testing; health disparities; health equity; precision oncology; reproductive medicine; social determinants of health.

Publication types

Review
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Genetic Testing
Genome, Human
Genomics* / methods
Health Services Accessibility
Humans
Neoplasms / genetics
Precision Medicine* / methods