USPSTF released updated guidelines (2019) to help primary care professionals identify women who would benefit from further genetic counseling and testing for BRCA1 and BRCA2. Two major changes from previous USPSTF recommendations address the inclusion of two additional patient groups: (1) women with previous breast cancer or ovarian cancer who are considered cancer-free; (2) the explicit inclusion of ancestry.
The USPSTF recommends that primary care clinicians, using an “appropriate brief familial risk assessment tool” should screen women with
The USPSTF document further states that
Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing. (Grade B – The USPSTF recommends the service. There is high certainty that the net benefit is moderate or there is moderate certainty that the net benefit is moderate to substantial)
Note: A patient with a family member with known BRCA1/2 pathogenic variant should also be referred to genetic counseling
For women whose personal or family history or ancestry is not associated with potential harmful BRCA1/2 gene mutations
The USPSTF recommends against routine risk assessment, genetic counseling, or genetic testing (Grade D – The USPSTF recommends against the service. There is moderate or high certainty that the service has no net benefit or that the harms outweigh the benefits)
Note: NCCN and ACMG/ NSGC also have guidelines regarding when to refer women for genetic counseling (see ‘Learn More – Primary Sources’ below for links to these sites)
Note: See ‘BRCA1 & BRCA2 Mutations: What Are the Risks for Developing Breast and Ovarian Cancer?’ in ‘Related ObG Topics’ below
Addendum: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment (see Table 1 in original article)
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