Genetics and BRCA in Primary Care

Katherine Kolor, PhD, CGC


October 13, 2014

Editorial Collaboration

Medscape &

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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 and ovarian 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 the BRCA1 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 the BRCA 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. These tools 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.

Comprehensive BRCA counseling includes pretest counseling (involving detailed family history analysis and risk assessment for potentially harmful BRCA mutations), education about the possible implications of genetic testing, identification of affected family members who may be preferred candidates for testing (and outlining options for interventions for appropriate patients), and post-test counseling for interpretation of genetic test results.

Identifying women with harmful BRCA mutations can be important for their own health and the health of their family members.

Most breast and ovarian cancers that occur in women in the general population are not hereditary. About 3% of women who develop breast cancer and about 10% of women who develop ovarian cancer have an associated BRCA1 or BRCA2 mutation. For women who have a BRCA mutation, the risk of developing breast or ovarian cancer is greatly increased, with current risk estimates ranging from 45% to 65% for breast cancer and 10% to 39% for ovarian cancer by age 70, in the absence of intervention.

Intervention. Interventions available to help reduce these risks include earlier, more frequent, or intensive screening; risk-reducing medications (such as tamoxifen or raloxifene); and risk-reducing surgery (such as mastectomy or salpingo-oophorectomy). The USPSTF found the strength of evidence to vary across these types of interventions. Interventions for women at risk should be considered in consultation with a healthcare provider knowledgeable about the medical management of women with BRCA mutations.

Once a BRCA mutation is identified in a family, relatives should receive genetic counseling to understand their risk. Parents, siblings, and children of people with harmful BRCA mutations have a 50% chance of having the mutation as well.

Here are a few take-home messages:

Most of your patients are not at increased risk for harmful BRCA mutations, but patients who screen positive on the basis of family health history could benefit from genetic counseling and evaluation for BRCA testing;

Genetic counseling by a healthcare provider with specialized training is important to help women make informed decisions about BRCA genetic testing;

Women with harmful BRCA mutations can take effective steps to lower their risk for breast cancer and ovarian cancer; and

Health insurance often, but not always, covers the cost of genetic counseling and BRCA testing.

For additional information, links to the USPSTF recommendation as well as several educational resources and tools are provided below, including screening tools that your patients can complete prior to a doctor's visit.

Thank you.

Web Resources

USPSTF Recommendation Statement: Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

Hereditary Breast and Ovarian Cancer: Is Your Patient at High Risk? A free CME course for primary care providers that includes interactive cases and resources designed to improve your ability to identify, evaluate, and manage patients at risk for hereditary breast and ovarian cancer.

CDC Video Resource: Using Genomics to Prevent Cancer Now

CDC Toolkit for State Health Departments to promote health care–public health partnerships to implement evidence-based genomic testing applications, including BRCA-associated hereditary breast and ovarian cancer

Breast and Ovarian Cancer and Family Health History


Breast Referral Screening Tool

Katherine Kolor, PhD, CGC, is a health scientist in CDC's Office of Public Health Genomics (OPHG), which serves as the national focus for integration of genomics into public health research and programs for disease prevention and health promotion. Dr Kolor joined OPHG in 2005 and currently serves as a senior scientific advisor for public health scientific policy, planning, and evaluation activities. Her efforts include assessing awareness and use of genetic tests among healthcare providers and the public through public health surveillance and surveys. Earlier in her career with OPHG, Dr Kolor's efforts were focused on contributing to the EGAPP™ initiative to establish and test a systematic, evidence-based process for evaluating genetic tests and other applications of genomic technology that are in transition from research into clinical and public health practice.

Dr Kolor received her BS in biology from the State University of New York at Albany, her PhD in genetics from the University of Washington, and her MS in human genetics from Sarah Lawrence College. Dr Kolor is a board-certified genetic counselor.