The most appropriate management of this patient is to obtain a comprehensive three-generation family history that specifically assesses for the presence of breast, ovarian, and other cancers. According to the U.S. Preventive Services Task Force (USPSTF), the decision of whether or not to perform BRCA genetic testing should be based on a woman's family history of breast cancer. Family history attributes that suggest an increased likelihood of the presence of a BRCA gene mutation include multiple family members with breast cancer, the presence of both breast and ovarian cancer, breast cancer diagnosis before the age of 50 years, breast cancer in one or more male family members, bilateral breast cancer, and Ashkenazi Jewish heritage. Women who are found to be at increased risk for carrying the BRCA1 and BRCA2 gene mutations should be offered genetic counseling and, if appropriate after counseling, BRCA genetic testing. The USPSTF recommends against routine testing for BRCA1 and BRCA2 gene mutations in women who lack a family history suggestive of such mutations.
Ordering screening mammography for this 32-year-old woman is also not appropriate because of her young age. The USPSTF currently recommends biennial screening mammography for women aged 50 to 74 years. Additionally, the USPSTF recommends individualized screening decisions for women younger than 50 years based on patient context and values regarding specific benefits and harms.
According to the USPSTF, performing genetic testing for BRCA1 and BRCA2 gene mutations would not be appropriate before obtaining a comprehensive family history.
Referral for genetic counseling would also be inappropriate at this stage. Referral for genetic counseling should occur if, after obtaining a three-generation family history, BRCA genetic testing is indicated. Genetic counseling should always occur before any genetic test is performed.