USPSTF Updates Recommendations on Testing for BRCA-related Cancers in Women

The United States Preventive Services Task Force (USPSTF) has revised their recommendations on testing for cancer-associated BRCA1/2 mutations in women, suggesting risk assessment only in those with a personal or family history of cancers associated with these mutations.

These guidelines were published in the journal JAMA in a statement titled, “Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.”

The genes breast cancer susceptibility 1 and 2 (BRCA1/2) provide instructions for making proteins that help cells repair damage to their DNA. Mutations in these genes that affect their function are associated with an increased risk of several types of cancer. Testing for these mutations may therefore provide insight into an individual’s risk of developing these cancers.

The USPSTF reviewed evidence to determine the potential benefits or harm of testing for these mutations in female patients. Monetary cost was not considered in the assessment, and the writers of the recommendation noted that “clinical decisions involve more considerations than evidence alone,” so clinicians should be aware of the evidence, but make decisions based on each patient’s specific situation.

Based on their review of the evidence, the USPSTF now recommends that women with a personal or family history of cancer of the breast, ovary, fallopian tube, or peritoneum (the tissue lining the abdominal cavity), or those who have “an ancestry associated with BRCA1/2 gene mutations,” should be given a familial risk assessment tool — basically reviewing their family history to clarify to what extent they are likely to carry these mutations.

Based on this assessment, patients can then be referred for genetic counseling and, if warranted, genetic testing — though the USPSTF noted that such testing “should be performed only when an individual has personal or family history that suggests an inherited cancer susceptibility, when an individual is willing to talk with a health professional who is suitably trained to provide genetic counseling and interpret test results, and when test results will aid in decision-making.”

For women without any of the aforementioned family history, the USPSTF determined that the potential benefits of this kind of risk assessment are “small to none.” As such, they concluded that the potential harm outweighs the potential benefits, so such assessments are not recommended.

The recommendations are specific to the aforementioned cancer types and do not apply to male breast cancer, pancreatic cancer, prostate cancer, or melanoma, all of which are also associated with BRCA1/2 mutations.