BRCA-Related Cancer Genetic Counseling is Indicated in Many Women Seeking Primary Care

Background: Guidelines updated by the United States Preventive Services Task Force (USPSTF) in 2019 recommend referral to genetic counseling for asymptomatic women that have a family history of cancers potentially associated with variants in the breast cancer type 1 and 2 susceptibility genes (BRCA1 and BRCA2). Methods: I performed a needs assessment for BRCA-related cancer genetic counseling among undifferentiated women seeking primary care at an urban, academic medical center with an underserved population. Adult, English-speaking women with outpatient primary care appointments were surveyed. Questions included personal and family history of potentially BRCA-related malignancies, history of genetic counseling and/or testing, and a version of the USPSTF-recommended 7-Question Family History Screening (FHS-7) tool, modified to promote accessibility among women with low health literacy. Results: Out of 397 women, 97 women (24.4% +/- 4.2%, 95% CI) met criteria for referral to genetic counseling. Among women with referral indications, 80 women (82.4% +/- 7.6%) had no prior contact with genetic counseling and/or testing services (comprising 20.1% +/- 3.9% of all women surveyed). The most common indication for BRCA-related genetic counseling referral was family history of female breast cancer before age 50 years. Conclusions: The rate that undifferentiated women seeking primary care met 2019 USPSTF criteria for BRCA-related cancer genetic counseling referral (24.4% +/- 4.2%) exceeds earlier estimates (4 to 5%) but agrees with later, population-level estimates (24.1%). Health systems will need to appropriately allocate capacity to genetic counseling services and/or reconsider the appropriateness of FHS-7 as a primary care risk-stratification tool.