Harmful mutations in the BRCA1 and BRCA2 genes (BRCA1/2) are correlated with increased risk for developing peritoneal, fallopian tube, ovarian, male and female breast, pancreatic, and aggressive prostate cancers. The United States Preventive Services Task Force (USPSTF) recently updated their recommendations for risk assessment, genetic counseling, and genetic testing for BRCA1/2-related cancers from their 2013 recommendation.1

Breast cancer is the most common cancer following nonmelanoma skin cancer in women in the United States, and it is the second leading cause of cancer death. BRCA1/2 mutations occur in approximately 1 in 300 to 500 women, and these mutations account for 5% to 10% of cases of breast cancer and 15% of cases of ovarian cancer.1

New Inclusions

In its 2019 recommendation, the USPSTF recommends evaluating women who have a personal or family history of peritoneal, fallopian tube, ovarian, or breast cancer or who have ancestry with harmful mutations in the BRCA1/2 genes with a familial-risk assessment tool. Patients who receive a positive result on the risk-assessment tool should receive genetic counseling and genetic testing if indicated.1

For women without a personal or family history of these cancers or a family history of harmful BRCA1/2 mutations, the USPSTF recommends against routine risk assessment, genetic counseling, and genetic testing.1

Nurse navigators are likely to play an important role in facilitating thorough, in-depth conversations with patients about routine assessment, genetic counseling, and genetic testing. In fact, a 2015 study on efficiency in identifying cancer patients who should undergo genetic and genomic testing indicated nurse navigators were particularly well positioned in the continuum of cancer care to facilitate timely testing in compliance with recommendations from the National Comprehensive Cancer Network.2

Support for the Updates

To update their recommendations, the USPSTF evaluated evidence on risk assessment, genetic counseling, and genetic testing for BRCA1/2 mutations in women without symptoms who had never been diagnosed with a BRCA-related cancer and in women with a prior diagnosis of peritoneal, fallopian tube, ovarian, or breast cancer. Recommendations indicated a moderate (grade B) benefit to assessment, genetic counseling, and genetic testing in women with a family or personal history that correlated with increased risk for peritoneal, fallopian tube, ovarian, or breast cancer or who have family with harmful BRCA1/2 mutations. For women without such personal or family history of cancer or BRCA1/2 mutations, the USPSTF gave a grade D recommendation, discouraging the service from being used.1

A grade of B means the USPSTF recommends the service offered as having “high certainty that the net benefit is moderate, or there is moderate certainty that the net benefit is moderate to substantial.” A grade of D means the USPSTF discourages the use of the service as having “moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits.”1

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Notably, this updated recommendation now includes women with a previous history of breast or ovarian cancer who are considered cancer-free and includes ancestry as a risk factor. A perspective piece contextualizing the USPSTF recommendation also noted that “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.”3

Although the authors of this perspective emphasized the importance of expanding the USPSTF recommendation, they also lauded the clear recommendation of identifying patients with deleterious BRCA1/2 mutations as potentially “lifesaving and should be a part of routine medical care.”3