Integrating Genetic Ancestry into Clinical Care: Accuracy, Utility, and Stakeholder Views

Abstract

ABSTRACTPURPOSEThis study aimed to evaluate the concordance of genetic ancestry reports from different providers, assess the accuracy of genetic ancestry compared to self-identified race and ethnicity (SIRE), and explore patient and provider perspectives on the potential utility and integration of genetic ancestry data into the electronic health record (EHR).METHODSGenetic ancestry results from two commercial providers and two 3rd-party analyses were compared for concordance using data from 451 participants in the UCSF 3D Health Study. Genetic ancestry was also compared to SIRE. Surveys were administered to gather perspectives on genetic ancestry testing, its accuracy, and potential integration into the EHR.RESULTSThe overall mean concordance between the two commercial providers was 58.41%. Ancestry from one provider had the highest concordance with SIRE, ranging from 80.05% to 94.78% across different thresholds. The majority of participants and providers were neutral regarding the integration of genetic ancestry into the EHR.CONCLUSIONSignificant discordance exists between genetic ancestry reports from different providers, highlighting the need for standardization in the calculation of genetic ancestry. While participants and providers acknowledge the potential utility of genetic ancestry in personalized medicine, concerns regarding data privacy, accuracy, and the potential for discrimination must be addressed before integration into the EHR.