Should You Be Tested for BRCA Mutations? New Guidelines

(August 22, 2019) This week, The US Preventive Services Task Force published new recommendations on risk assessment, genetic counseling, and genetic testing for BRCA mutations and BRCA-related cancers.

The US Preventive Services Task Force (USPSTF) makes recommendations about the effectiveness of specific preventive care services for patients without obvious related signs or symptoms.

It bases its recommendations on the evidence of both the benefits and harms of the service and an assessment of the balance. The USPSTF does not consider the costs of providing a service in this assessment.

The USPSTF recommends the following when it comes to BRCA mutation testing:

The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with BRCA1/2 gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing.

The USPSTF also recommends against routine risk assessment, genetic counseling, or genetic testing for women whose personal or family history or ancestry is not associated with potentially harmful BRCA1/2 gene mutations.

An easy-to-understand summary of these recommendations is available.
The complete USPSTF Recommendation Statement is available on the JAMA website.