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

Abstract

PURPOSE: This 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). METHODS: Genetic 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. RESULTS: The 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. CONCLUSION: Significant 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.

Competing Interest Statement

The authors have declared no competing interest.

Funding Statement

This study was funded by UCSF internal funds.

Author Declarations

I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.

Yes

The details of the IRB/oversight body that provided approval or exemption for the research described are given below:

Institutional Review Board of University of California, San Francisco gave ethical approval for this work.

I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals.

Yes

I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance).

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I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable.

Yes

Data Availability

All data produced in the present study are available upon reasonable request to the authors.

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