Opportunities amid complexities in returning genetic results to black precision medicine research participants: Interview themes in context with open all of us data.

Abstract

Objective: We sought to describe perspectives among Black nursing professionals and community leaders regarding the return of genetic test results, and place perspectives into context with aggregated findings in the All of Us Research Program's Data Browser.

Methods: Semi-structured, virtual interviews were held with adults (≥18 years of age) self-identifying as Black. A 2-step thematic analysis process was used to assess interviewee perspectives with (sub)themes identified in the literature across two topics: drug/medication response and hereditary disease risk. Themes were placed into context with Data Browser content, focusing on genes and their respective alleles with frequencies ≥0.10 in African ancestry populations in All of Us.

Results: Interviewee perspectives aligned with previously identified major themes in the literature (motivations to engage or disengage; integrating research and care), with five (5) subthemes emerging across major themes. Seven (7) alleles were observed with frequencies ≥0.10 for three (3) pharmacogenomic (PGx) biomarkers in the Data Browser for African ancestry populations: CYP2C19 (SNV, 10-94761900-C-T; SNV,10-94775367-A-G; SNV 10-94781859-G-A), DPYD (SNV, 1-97883329-A-G; SNV, 1-97515839-T-C), UGT1A1 (insertion, 2-233760233-C-CAT; SNV, 2-233757136-G-A). Four (4) alleles were observed with frequencies ≥0.10 for three (3) genes implicated in hereditary disease risk, two of which contemporaneously hold PGx implications for African ancestry populations: CACNA1S (PGx, SNV, 1-201112815-C-T; SNV, 1-201110107-C-T), SCN5A (no PGx, SNV, 3-38603929-T-C), TP53 (PGx, SNV, 17-7676154-G-C).

Conclusions: Our findings convey important clinical and translational science considerations for individuals and community leaders of African ancestry and researchers seeking reputable, publicly available information to understand, communicate, and act on genomic findings.