March 14, 2023

NIH-funded NASEM report recommends best practices for use of population descriptors in genetics and genomics research

We would like to thank the National Academies of Science, Engineering, and Medicine (NASEM) for providing a timely and thoughtful set of recommendations to address the use of population descriptors such as race, ethnicity, and ancestry in genetics and genomics research. This issue is of paramount importance to NIH, as genetic and genomic information continues to hold promise for transforming how we understand, treat, and cure human disease. At the same time, incorrect assumptions and poor scientific design attempting to discern the relationship between genomics and race have led to false conclusions perpetuating systemic biases in research and medicine. Clear guidance, rooted in ethical practice and empirical principles, about the appropriate use of population descriptors in research will be key for researchers in shedding light on the biological mechanisms underlying complex behaviors and help us realize the promise of precision medicine.

Since the completion of the Human Genome Project, NIH has engaged with researchers and the public to ensure the relationship between human genetic variation and social constructs or population descriptors, such as race and ethnicity, are interpreted and represented accurately. This report will inform NIH's ongoing efforts to safeguard scientific integrity in genomics and promote the responsible design of research studies so that all populations benefit from scientific advances.

Lawrence A. Tabak, D.D.S., Ph.D.
Performing the Duties of the Director, NIH

Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute

Eliseo J. Pérez-Stable, M.D.
Director, National Institute on Minority Health and Health Disparities