More Women May Be Screened for BRCA Mutations Following USPSTF Guideline Update

The update to the 2013 recommendation includes a grade B recommendation that women with a personal history of breast, ovarian, tubal, or peritoneal cancer, and women with ancestry associated with BRCA1/2 mutations be assessed for the genetic mutations.

More women with a family history of breast or ovarian cancer may benefit from genetic testing following an updated recommendation from the US Preventive Services Task (USPSTF) on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer.

The USPSTF has long recommended risk assessment, genetic counseling, and genetic testing for women with a family history of breast and/or ovarian cancer, but the updated recommendation includes 2 important changes, which will expand the pool of women who should be tested and receive genetic counseling and testing.

Published in JAMA,1 the recommendation suggests that in addition to women with a known family history of BRCA1/2 mutations, women who have survived and completed treatment for breast, ovarian, tubal, or peritoneal cancer should be assessed for the gene mutations. It also indicates that women with ancestry associated with higher susceptibility to BRCA1/2 mutations, including women of Ashkenazi Jewish descent, should be assessed.

According to a piece in this month’s issue of Evidence-Based Oncology™, the risk of inheriting a BRCA mutation is 1:40 for those of Ashkenazi descent, which is 10 times higher than that of the general population. However, most primary care physicians are unaware of this risk and thus do not routinely offer high-risk population genetic counseling and testing. As a result, most BRCA-positive men and women learn of their mutation only after receiving an advanced-stage cancer diagnosis and/or losing a loved one to BRCA-related cancer.

For women with ancestry-related risk, as well as women with a personal history of BRCA-related cancers, USPSTF issued a grade B recommendation that providers assess women with a familial risk assessment tool. Those who have a positive result should receive genetic counseling and, if indicated after counseling, genetic testing.

However, the benefit of assessment, counseling, and testing does not spill over to women with a personal or family history that is not associated with potentially harmful BRCA1/2 mutations, according to the task force, which issued a D recommendation for risk assessment and genetic counseling and testing for this group.

The changes in the updated recommendation are undoubtedly a positive step forward, but the recommendation still leaves some issues unresolved, argued Susan Domchek, MD, executive director of the Basser Center for BRCA at the Abramson Cancer Center at the University of Pennsylvania, and Mark Robson, MD, medical oncologist and chief of Breast Medicine Service at Memorial Sloan Kettering Cancer Center, in an accompanying editorial.2

“Importantly, but not included in this recommendation, BRCA1/2 status is relevant for patients with newly diagnosed early stage breast cancer for surgical decision making and can also be used to determine appropriate treatment of certain advanced cancers,” they wrote.

The pair also cited concerns over growing use of multigene panel testing, which has largely replaced BRCA1/2 testing. While the panels detect more pathogenic variants, they also create certain challenges, including increasing the number of detected variants of uncertain significance and identifying pathogenic variants with unclear associations of disease risk.

At the same time, direct-to-consumer genetic testing has increased in recent years. For example, in March 2018, the FDA authorized 23andMe’s test for 3 common BRCA mutations associated with Ashkenazi Jewish ancestry. However, many people of Ashkenazi descent with strong histories of cancer carry an uncommon BRCA mutation, or a mutation in one of dozens of other cancer genes that 23andMe does not test. In addition to consumers having misconceptions about what these tests offer, the results are not always accurate, both of which highlight the need for confirmatory testing to validate results and genetic counseling to help consumers understand them. Luckily, insurers are beginning to get on board.


  1. US Preventive Services Task Froce. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer; US Preventive Services Task Force recommendation statement [published online August 20, 2019]. JAMA. doi:10.1001/jama.2019.10987.
  2. Domchek S, Robson M. Broadening criteria for BRCA1/2 evaluation; placing the USPSTF recommendation in context [published online August 20, 2019]. JAMA. doi:10.1001/jama.2019.9688.