Special Communication
August 24/31, 2005

Genetic Influences on HealthDoes Race Matter?

Author Affiliations

Author Affiliation: Department of Pediatrics and Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah, Salt Lake City.

JAMA. 2005;294(8):937-946. doi:10.1001/jama.294.8.937

Race is frequently used by clinicians and biomedical researchers to make inferences about an individual’s ancestry and to predict whether an individual carries specific genetic risk factors that influence health. The extent to which race is useful for making such predictions depends on how well race corresponds with genetic inferences of ancestry, how frequently common diseases in different racial groups are influenced by the same vs different gene variants, and whether such variants have the same effects in different racial groups. New studies of human genetic variation show that while genetic ancestry is highly correlated with geographic ancestry, its correlation with race is modest. Therefore, while data on the correspondence of race, ancestry, and health-related traits are still limited, particularly in minority populations, geographic ancestry and explicit genetic information are alternatives to race that appear to be more accurate predictors of genetic risk factors that influence health. Making accurate ancestry inferences is crucial because common diseases and drug responses are sometimes influenced by gene variants that vary in frequency or differ altogether among racial groups. Thus, operationalizing alternatives to race for clinicians will be an important step toward providing more personalized health care.