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

TL;DR

This study explores how Black participants in precision medicine view genetic results and connects their perspectives with genetic data from the All of Us program.

Contribution

The study provides new insights into Black participants' perspectives on genetic results and contextualizes them with pharmacogenomic and hereditary disease data from African ancestry populations.

Findings

Five subthemes emerged from interviews about returning genetic results to Black participants.

Seven alleles with frequencies ≥0.10 were identified for pharmacogenomic biomarkers in African ancestry populations.

Four alleles with frequencies ≥0.10 were found for genes related to hereditary disease risk.

Abstract

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.

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.

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).

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.

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