Updated guidelines on BRCA-related genetic counseling and testing

A recent update to the USPSTF guidelines recommends that providers use a risk assessment tool for all women with personal or family history of breast and ovarian cancer.

Potentially harmful mutations of the breast cancer susceptibility 1 and 2 genes (BRCA1/2) are associated with increased risk for breast, ovarian, fallopian tube, and peritoneal cancer. In the Western world, breast cancer is the most common cancer after non-melanoma skin cancer and the second leading cause of cancer death. In the general population, BRCA1/2 mutations occur in an estimated 1 in 300 to 500 women and account for 5% to 10% of breast cancer cases and 15% of ovarian cancer cases.

In 2013, the U.S. Preventive Services Task Force (USPSTF) recommended referral to genetic counseling only for women with a family history of breast, ovarian, tubal, or peritoneal cancer.

Now, in a recent publication, these guidelines have been updated  to reflect the latest evidence regarding benefits and harms of risk assessment and genetic testing. (US Preventive Services Task Force, Owens et al  Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. . JAMA. 2019 Aug 20;322(7):652-665. doi: 10.1001/jama.2019.10987)

The key recommendations of the recent update are:

  • Primary care providers should screen patients who have a personal history or family history of breast and ovarian/peritoneal/tubal cancers.
  • One of the seven available risk assessment tools should be used to estimate the likelihood of carrying a pathogenic BRCA mutation.
  • Women with a positive screen should be referred for genetic counseling and, if indicated, testing.
  • Routine screening and genetic testing are not recommended among the general population without a history suggestive of BRCA mutation.

Many professional oncology societies have already adopted genetic testing guidelines that address family history and personal history of cancer; now, this USPSTF update expands the obligation to the primary care arena. Among assessment tools, the Gail Model is not appropriate for calculating risk for BRCA mutation; either the Referral Screening Tool or Tyrer Cuzick is preferable. Clinicians can use a few simple red flags in a patient’s history to generate a referral for genetic testing; these include personal or family history of breast cancer with Ashkenazi Jewish ancestry, breast cancer diagnosis before age 45, male breast cancer, tubal or ovarian cancer at any age, or breast and ovarian cancer in the same individual. Direct to consumer genetic testing (e.g., 23andMe) only looks for 3 Ashkenazi Jewish founder mutations in BRCA genes and does not identify the other 98% of BRCA mutations.

These days, genetic testing typically involves multiple gene panels beyond BRCA; the National Comprehensive Cancer Network provides guidelines for such tests.

doi: 10.1001/jama.2019.10987.