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

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).

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.

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.

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.