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Concordance of Race Documented in Electronic Health Records and Genetic Ancestry

By Theresa L. Walunas, Jennifer A Pacheco, Kathryn L. Jackson, Anna Roberts, Loren L. Armstrong, Jess Behrens, M. Geoffrey Hayes, Abel N Kho

Posted 04 Apr 2019
bioRxiv DOI: 10.1101/598706

Objective: Genetic 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. Materials and Methods: We 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. Results: We 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%). Discussion and Conclusions: The 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.

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