MKSAP 18 "Quiz Me!" Question: Answer and Critique


D: Refer to a genetic counselor

Educational Objective

Recommend genetic counseling to an asymptomatic patient with a family history of BRCA-related cancers.


The most appropriate management for this patient is referral to a genetic counselor. This patient has a family history suggestive of an inherited breast and ovarian cancer susceptibility gene and is interested in genetic testing. Both her mother and maternal aunt had cancers suggestive of a BRCA1 or BRCA2 mutation. Women with triple-negative breast cancers diagnosed before age 60 years are recommended to have BRCA1 and BRCA2 genetic testing, as are women with ovarian cancer diagnosed at any age. Referral to a genetic counselor or other suitably trained health care provider is the best option for genetic risk assessment. The U.S. Preventive Services Task Force has published guidelines for risk assessment and recommends referral to a genetic counselor for asymptomatic women who have not been diagnosed with a BRCA-related cancer but have a family history of BRCA-related cancers. These guidelines include screening tools designed to identify a family history that may be associated with an increased risk for BRCA1 or BRCA2 mutations. Family history factors suggesting an increased likelihood of BRCA mutations include breast cancer diagnosis before age 50 years, bilateral breast cancer, family history of breast and ovarian cancer, presence of breast cancer in one or more male family members, multiple cases of breast cancer in the family, one or more family member with two primary types of BRCA-related cancer, and Ashkenazi Jewish ethnicity. Genetic counseling should always occur before any genetic test is performed. The essential components of counseling include informing the patient of the test purpose, implications of diagnosis, alternative testing options (including foregoing testing), and any possible risks and benefits. The National Society of Genetic Counselors Web site can be used to locate a genetic counselor.

Direct-to-consumer tests may not include the appropriate type of genetic testing. In addition, genetic testing should be done after pretest genetic counseling, which is not always available in patients being tested by direct-to-consumer commercial genetic tests.

Although BRCA1 and BRCA2 testing for the three mutations most common in the Ashkenazi Jewish population (called multisite testing) is recommended for Ashkenazi Jewish women with breast cancer diagnosed at any age, comprehensive BRCA1 and BRCA2 testing is recommended if additional criteria for BRCA1/2 testing are met.

Key Point

Asymptomatic patients with a family history of BRCA-related cancers should receive genetic counseling for genetic risk assessment.


Moyer VA; U.S. Preventive Services Task Force. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med. 2014;160:271-81.

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