BRCA1 and BRCA2 are genes present in every person, playing a role in repairing damaged DNA within cells. These genes act as tumor suppressors, meaning their normal function helps prevent uncontrolled cell growth that can lead to tumors and cancer. When harmful changes, known as mutations or pathogenic variants, occur in BRCA1 or BRCA2, their ability to repair DNA is impaired. This impairment can significantly increase an individual’s risk of developing certain cancers, including breast and ovarian cancer, and potentially others such as prostate and pancreatic cancer.
Who Should Consider BRCA Testing?
Genetic testing for BRCA mutations is recommended for individuals with a higher likelihood of carrying a harmful gene change. This includes those with a strong personal or family history of specific cancers, especially if diagnosed at younger ages. For instance, a personal history of breast cancer diagnosed before age 50, or a family history of ovarian, male breast, pancreatic, or metastatic prostate cancer warrants testing.
A close blood relative with a known BRCA mutation is another significant factor, as these mutations are inherited. Certain ethnic backgrounds also have a higher prevalence of specific BRCA mutations. For example, about 1 in 40 people of Ashkenazi Jewish descent carry a harmful change in these genes, compared to about 1 in 400 to 1 in 800 in the general U.S. population. Other populations also have specific founder mutations.
Where to Access BRCA Testing
Accessing BRCA testing involves a healthcare professional’s guidance due to the complexities of risk assessment and result interpretation. Genetic counselors are specialists trained to evaluate personal and family medical histories, assess cancer risks, explain testing options, and interpret results. They guide individuals through the decision-making process for genetic testing.
Oncologists and other cancer specialists refer patients for BRCA testing, particularly if a personal cancer diagnosis suggests an inherited predisposition. Specialized clinics and hospitals have dedicated genetic testing centers with multidisciplinary teams providing comprehensive support. These centers offer in-depth evaluations and access to a broader range of genetic tests.
While primary care providers do not conduct the test directly, they can initiate referrals to a genetic specialist. They also help determine if an individual meets testing criteria based on updated guidelines. Consulting a primary care doctor is a common first step for many considering genetic testing.
Direct-to-consumer (DTC) genetic testing kits offer some information about BRCA genes. However, these tests have limitations, such as not being comprehensive (some only test for a few common mutations) and lacking the pre- and post-test genetic counseling provided in a clinical setting. Professional follow-up with a genetic counselor or healthcare provider is advised for any concerning DTC results to ensure accurate interpretation and appropriate medical management. Insurance coverage for BRCA testing varies, but many plans cover it when recommended due to personal or family cancer history. Check with providers about financial considerations.
The Testing Process
Once an individual decides to proceed with BRCA testing, the process begins with pre-test counseling. This session involves a thorough discussion of the risks, benefits, and implications of testing. It ensures the individual understands what the results could mean for their health and their family.
Following counseling, a biological sample is collected for analysis. The most common method is a blood draw. Alternatively, a saliva sample or a cheek swab may be used. These samples contain DNA sent to a specialized laboratory for sequencing to identify any harmful changes in the BRCA1 and BRCA2 genes.
After the sample is collected, there is a waiting period for results, typically several weeks. Once laboratory analysis is complete, results are delivered during a post-test counseling session with a genetic counselor or healthcare provider. This session allows for a detailed explanation of findings and a discussion of next steps.
Understanding Test Results and Next Steps
BRCA test results fall into three categories. A “positive result” indicates a harmful mutation in BRCA1 or BRCA2 was found. This means the individual has an increased risk of developing certain cancers, though it does not guarantee cancer will occur. For those with a positive result, further discussions with a genetic counselor or specialist are important to understand personalized management plans. These plans may involve increased cancer screenings, risk-reducing surgeries, or medication.
A “negative result” means no known harmful mutation was identified in the tested genes. If a specific harmful mutation has already been identified in a close blood relative and the tested individual does not have it, this is considered a “true negative.” A negative result does not eliminate all cancer risk, as other genetic factors or lifestyle choices can still contribute to cancer development.
Sometimes, a “variant of uncertain significance” (VUS) result is reported. This means a genetic change was found, but medical experts are unsure if it increases cancer risk. VUS results are considered inconclusive and do not immediately change medical management; individuals are advised to follow standard screening guidelines. Further research or testing of family members may help clarify a VUS’s significance over time. Regardless of the result, post-test counseling is important to clarify findings, discuss implications for family members, and develop appropriate long-term health strategies.