Genetics and BRCA in Primary Care

Katherine Kolor, PhD, CGC

DisclosuresOctober 13, 2014

Hello. I'm Dr Katherine Kolor, from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). I am speaking to you as part of the CDC Expert Commentary Series on Medscape, about how primary care providers can help identify women at risk for hereditary breast andovarian cancer, before cancer occurs, to guide preventive interventions.

In 2013, the US Preventive Services Task Force (USPSTF) reaffirmed their 2005 recommendation that primary care providers use family health history information as a screen to identify women who may have an increased risk for harmful mutations in theBRCA1 or BRCA2 genes. Women with positive screening results should then receive genetic counseling and, if indicated after counseling, BRCA testing. Of importance, genetic counseling, if appropriate, is covered without cost sharing by many health plans under the Affordable Care Act when used in accordance with the USPSTF recommendation. And the Department of Health and Human Services has advised insurance companies to cover theBRCA test without cost sharing in accordance with the USPSTF recommendations.

The USPSTF recommends against routine referral for women without an increased family history risk. Also, the USPSTF recommendations apply to women without a personal history of breast or ovarian cancer. Women affected by these cancers can also benefit from genetic counseling and evaluation for BRCA testing, according to professional guidelines such as those from the National Comprehensive Cancer Network.

Screening tools. Screening tools are available to help primary care providers identify women at risk.The USPSTF has now evaluated several screening tools to assist primary care providers with collecting and evaluating family health history information to determine the need for in-depth genetic counseling. Thesetools include the Ontario Family History Assessment Tool, the Manchester Scoring System, the Breast Referral Screening Tool, the Pedigree Assessment Tool, and the FHS-7. Generally, the screening tools assess family history factors associated with an increased risk for harmful BRCA mutations, such as:

• Breast cancer at a young age (before age 50 years);

• Breast and ovarian cancer among relatives;

• Multiple relatives with breast or ovarian cancer;

• Bilateral breast cancer;

• A combination of two primary types of BRCA-related cancer, such as breast, ovarian, tubal, or peritoneal cancer, in one or more relatives;

• Breast cancer in one or more male relatives; and

• Ashkenazi Jewish ancestry.

When using any family history collection tool for BRCA risk assessment, include—at minimum—first- and second-degree relatives, both the maternal and paternal sides of the family, and age of cancer diagnoses. No screening tool will identify all women at risk for harmful BRCA mutations based on family health history information. If you or your patient is concerned about her family history, then a consultation with a cancer genetics specialist or counselor can help determine whether genetic testing might be helpful.

Counseling. The USPSTF indicates that genetic counseling about BRCA mutation testing may be done by trained health professionals, including primary care providers who have the requisite skills and specialized training needed to provide comprehensive genetic counseling. Professional organizations and specialty groups provide accreditation standards and guidance on the necessary skills and training.