Concordance of Race Documented in Electronic Health Records and Genetic Ancestry

ObjectiveGenetic screening is the gold standard for biogeographical ancestry (i.e. race), but this information is often unavailable to those developing research studies. We assessed agreement between census- and electronic health record (EHR)-derived demographic data with genetic ancestry to determine if these sources could support selection of diverse cohorts.\n\nMaterials and MethodsWe identified a population of 4,837 genotyped patients and determined concordance between genetic measures of ancestry against race derived from decennial nationwide census, electronic medical records, and self-report.\n\nResultsWe identified a 90% or greater concordance between the EHR-derived data and genetic ancestry. Census data had a high concordance (97%) with genetic and self-reported data for patients of European ancestry but low concordance for patients of African ancestry (64%).\n\nDiscussion and ConclusionsThe high concordance between EHR-derived race and genetic ancestry suggests that EHR-derived information could be an effective proxy for race when recruiting for diverse research cohorts.