USPSTF Issues Draft Recommendation on BRCA Risk Assessment and Testing

By Amy Orciari Herman

Edited by David G. Fairchild, MD, MPH, and Lorenzo Di Francesco, MD, FACP, FHM

Women who have relatives with BRCA-related cancers (breast, ovarian, tubal, or peritoneal) or have an ethnicity/ancestry linked to BRCA1 or BRCA2 gene mutations should be screened to determine whether they are at elevated risk for BRCA mutations, according to a draft recommendation statement from the U.S. Preventive Services Task Force.

Women with positive screening results should undergo genetic counseling, followed by genetic testing if appropriate. The grade B recommendation is consistent with the group's 2013 guidance.

Initial screening tools may include the Ontario Family History Assessment or the Referral Screening Tool (see links below). Some family history factors linked to greater risk for BRCA mutations are breast cancer diagnosis before age 50, bilateral breast cancer, presence of both breast and ovarian cancer, a male with breast cancer, and Ashkenazi Jewish ethnicity.

At the same time, the USPSTF reiterated its recommendation against routine screening, genetic counseling, and genetic testing in women without a family or personal history or ethnicity/ancestry that puts them at increased risk for BRCA mutations (grade D recommendation).