BRCA testing is a genetic analysis that examines an individual’s DNA for specific, harmful changes in the \(BRCA1\) and \(BRCA2\) genes, which normally function in DNA repair. A mutation significantly increases the risk of developing certain inherited cancers. These mutations are primarily associated with breast, ovarian, prostate, and pancreatic cancer. Identifying these changes allows individuals to take proactive steps toward managing their health risk.
Determining Your Need for Testing
BRCA testing is not a routine screening for the general population but is reserved for those with a medical indication based on personal or family history. Testing is warranted if you have a personal history of breast cancer diagnosed at a young age (typically before 50), or if you have had multiple primary cancers. A diagnosis of ovarian, fallopian tube, or peritoneal cancer at any age is also a strong indicator.
The presence of male breast cancer or pancreatic cancer in a close family member can also signal an inherited risk. Family history criteria include having two or more close relatives on the same side of the family diagnosed with breast or ovarian cancer, especially if those diagnoses occurred at younger ages. Individuals with Ashkenazi Jewish ancestry are considered at higher risk because of common founder mutations in the \(BRCA1\) and \(BRCA2\) genes.
The initial step involves a formal risk assessment using standardized tools that quantify your likelihood of carrying a mutation. This assessment determines if testing is medically necessary and helps guide the genetic counseling session. A healthcare professional uses this information to decide if the benefits of testing outweigh the risks.
Clinical Pathways for Genetic Testing
The most comprehensive path for obtaining BRCA testing begins with a consultation with a genetic counselor. These specialists assess complex family histories, explain the implications of genetic results, and discuss testing options. They ensure patients understand the benefits, limitations, and potential psychological impact of genetic testing before a sample is collected.
For individuals with an existing cancer diagnosis, an oncologist often initiates the testing process to inform treatment decisions, such as the use of PARP inhibitors. Primary care providers (PCPs) can also serve as the initial point of contact, performing the preliminary risk assessment and providing a referral to a genetic specialist. However, PCPs may lack the specialized knowledge for comprehensive pre-test counseling or result interpretation.
Once the decision to proceed is made, the test requires a simple blood draw or saliva sample, which is sent to a certified clinical laboratory for analysis. The laboratory conducts a full sequence analysis of the \(BRCA1\) and \(BRCA2\) genes to identify any pathogenic or likely pathogenic variants. Pre-test counseling is considered integral, ensuring the patient is prepared for the results and the medical management plan.
Direct-to-Consumer Testing Considerations
Some companies offer direct-to-consumer (DTC) genetic testing kits that include analysis for certain \(BRCA1\) and \(BRCA2\) variants, typically requiring only a saliva sample collected at home. While convenient, these tests are highly limited in scope compared to a clinical-grade panel. Many DTC tests only screen for the three most common \(BRCA1/2\) founder mutations found in people of Ashkenazi Jewish descent.
These three mutations represent a minute fraction of the thousands of known pathogenic variants across the \(BRCA1\) and \(BRCA2\) genes. This limitation can lead to a false sense of security for many individuals. A negative result from a DTC test, therefore, does not eliminate an inherited cancer risk if the family history suggests otherwise. A comprehensive clinical test is necessary to rule out other mutations.
If a DTC test returns a positive result for one of the limited variants it screens for, this finding must always be confirmed by a clinical laboratory. The US Food and Drug Administration (FDA) recommends clinical confirmation using a new sample and a clinical-grade test before any medical decisions are made. This secondary testing is crucial because clinical laboratories use more rigorous methods than those used in most DTC platforms.
Navigating Insurance and Costs
The cost of comprehensive clinical BRCA testing can be substantial, often ranging from several hundred to a few thousand dollars if paid for entirely out-of-pocket. However, testing is frequently covered by insurance when it is deemed medically necessary, determined by meeting established clinical criteria, such as those set by the U.S. Preventive Services Task Force. The Affordable Care Act (ACA) mandates that most insurance plans cover genetic counseling and testing for women with certain risk factors at no cost-sharing.
This coverage usually requires the ordering provider to obtain a prior authorization from the insurance company before the sample is collected. It is important to contact the insurance provider directly to confirm coverage details and out-of-pocket costs, as coverage rules can vary significantly between different plans. For instance, Medicare coverage is often restricted to those who have already been diagnosed with cancer.
For individuals who are uninsured or underinsured, many large genetic testing laboratories offer patient assistance programs or sliding-scale fees to reduce the financial burden. These programs can often lower the cost of testing to an affordable flat rate or, in some cases, provide it for free. A genetic counselor can help navigate these financial assistance options.
Understanding Test Results and Next Steps
BRCA test results are generally categorized into three types, each with distinct implications for the patient and their family.
Pathogenic/Likely Pathogenic Results
A Pathogenic or Likely Pathogenic result (a positive result) means a harmful mutation was found that increases cancer risk. This outcome requires immediate follow-up with specialists to implement enhanced cancer surveillance protocols and discuss risk-reducing options, such as prophylactic surgeries.
Negative/Likely Benign Results
A Negative or Likely Benign result indicates that no known harmful mutation was found in the genes tested. While reassuring, a negative result in someone with a strong family history does not eliminate all cancer risk, meaning screening recommendations may still be based on family history.
Variant of Uncertain Significance (VUS)
The third possible result is a Variant of Uncertain Significance (VUS). This means a change was found in the gene, but it is not yet known whether the change is harmful or harmless. VUS results are common, particularly with multi-gene panel testing, and are generally treated as a negative result because they are not currently actionable. Laboratories constantly re-evaluate VUS findings, and the patient’s healthcare provider will be notified if the variant is reclassified as pathogenic or benign.
Regardless of the outcome, genetic counselors play a role in interpreting the results and facilitating the communication of this hereditary information to at-risk family members.