Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program
Alyna Khan, Stephanie M. Gogarten, Caitlin McHugh, Adrienne M. Stilp, Tamar Sofer, Michael Bowers, Quenna Wong, L. Adrienne Cupples, Bertha Hidalgo, Andrew D. Johnson, Merry‐Lynn McDonald, Stephen T. McGarvey, Matthew R. Taylor, Stephanie M. Fullerton, Matthew P. Conomos, Sarah C. Nelson
Abstract
How race, ethnicity, and ancestry are used in genomic research has wide-ranging implications for how research is translated into clinical care and incorporated into public understanding. Correlation between race and genetic ancestry contributes to unresolved complexity for the scientific community, as illustrated by heterogeneous definitions and applications of these variables. Here, we offer commentary and recommendations on the use of race, ethnicity, and ancestry across the arc of genetic research, including data harmonization, analysis, and reporting. While informed by our experiences as researchers affiliated with the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, these recommendations are applicable to basic and translational genomic research in diverse populations with genome-wide data. Moving forward, considerable collaborative effort will be required to ensure that race, ethnicity, and ancestry are described and used appropriately to generate scientific knowledge that yields broad and equitable benefit.