Race, genetics and medicine: does the color of a leopard's spots matter?

Accurate inference of genetic ancestry is critical because common diseases and drug responses can be influenced by genetic factors that vary in frequency or differ altogether among populations. Frequently, clinicians and researchers use popular notions of race to make inferences about a child's genetic ancestry and predict whether he or she carries specific 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 and whether ancestry is predictive of genotypes associated with risk.

Recent studies of human population genetic variation show that while race captures some information about genetic ancestry, particularly in US populations, it often fails to account for admixture and population structure. Ancestry is more accurately inferred by geographical origin or, better yet, explicit genetic data. This is an important result because the genetic variants predicted to underlie common disease are often not common across populations with different ancestry or differ significantly in frequency among such populations.

Geographical origin and explicit genetic data are more accurate predictors of ancestry than race. Using such alternatives is an important step toward identifying genetic risk variants for common pediatric diseases and personalizing disease prevention and intervention strategies.