Breast cancer genetic testing uptake in the Midwest, USA: a systematic review of barriers and facilitators among minority populations.

Background: Hereditary breast cancer, primarily linked to pathogenic BRCA1 and BRCA2 mutations, accounts for 5%-10% of all breast cancer cases in the United States. Despite national guidelines recommending genetic testing for individuals at elevated hereditary risk, uptake remains disproportionately low among African American and Hispanic/Latina women. Despite elevated risk in Black women data on genetic testing uptake in St. Louis is absent.

Objective: This systematic review aimed to address three research questions: (1) Are there racial and ethnic disparities in the utilization of BRCA genetic testing in Saint Louis? (2) What individual, provider, and systemic factors influence testing uptake among diverse populations? (3) What policy-level interventions are feasible and effective to improve BRCA testing rates in the city?

Methods: A systematic search of MEDLINE, EMBASE, APA PsycInfo, CINAHL Plus, Scopus, and Web of Science yielded 264 unique records. Twenty-five peer-reviewed studies published between 1996 and 2024 were included after applying inclusion criteria and quality appraisal. The studies span quantitative, qualitative, and mixed methods research on high-risk populations.

Results: BRCA awareness among African American women was significantly lower (12%-32%) than among White women (65%-75%). Fear of results (54%), mistrust, and concern over genetic discrimination (60%) were major barriers. Referral disparities were also stark-African American women were 50% less likely to receive provider referrals. Only 5% of genetic counselors identified as Black or Hispanic.

Conclusions: No studies specifically examined BRCA testing disparities in Saint Louis. Findings from similar Midwestern cities suggest urgent need for locally informed, equity-focused interventions.