Faculty, Staff and Student Publications

Language

English

Publication Date

5-2-2024

Journal

American Journal of Human Genetics

DOI

10.1016/j.ajhg.2024.04.002

PMID

38642557

PMCID

PMC11080611

PubMedCentral® Posted Date

4-19-2024

PubMedCentral® Full Text Version

Post-print

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

Humans, Genomics, Precision Medicine, Genome, Human, Genetic Testing, Neoplasms, Health Services Accessibility

Published Open-Access

yes

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