The BRCA1 and BRCA2 genes are foundational to understanding hereditary cancer risk, functioning normally as tumor suppressors that help repair damaged DNA within cells. Inheriting a harmful alteration, or mutation, in either of these genes significantly increases a person’s lifetime risk for developing several cancers, most notably breast and ovarian cancer, but also prostate and pancreatic cancers. This potential for elevated risk makes genetic testing a powerful tool for proactive health management. The decision to pursue testing must be guided by a clear understanding of established clinical criteria, the procedural steps involved, and the profound implications of the results for one’s future health.
Clinical Criteria for Determining Testing Eligibility
The core question of whether to pursue BRCA gene testing is answered by evaluating personal and family medical history against professional guidelines established by organizations like the National Comprehensive Cancer Network (NCCN). Genetic counseling is the necessary first step, serving as a comprehensive risk assessment to determine if an individual meets the criteria for testing coverage and medical utility. This process involves a trained professional meticulously mapping out the cancers that have occurred across at least three generations of your family.
Testing is recommended if a person has been diagnosed with breast cancer at age 45 or younger, or at any age if the tumor was identified as triple-negative breast cancer. A personal history of two or more separate primary breast cancers also warrants consideration. The criteria extend beyond breast cancer to include a personal history of ovarian, pancreatic, or metastatic prostate cancer, regardless of the age of diagnosis.
A strong family history, even without a personal cancer diagnosis, is often sufficient to qualify for testing. This includes having a close blood relative—such as a parent, sibling, or child—with a known BRCA1 or BRCA2 mutation. Having two or more relatives on the same side of the family with breast or a BRCA-associated cancer, like prostate or pancreatic cancer, can also meet the threshold. Specific ancestry, such as having Ashkenazi Jewish heritage, is a standalone factor that increases the likelihood of carrying one of the common founder mutations.
The Steps Involved in BRCA Gene Testing
The process begins with a mandatory pre-test genetic counseling session. This consultation ensures informed consent by thoroughly explaining the benefits, limitations, and potential outcomes of the test. The counselor confirms the correct test is ordered, which is important if a specific mutation has already been identified in a family member.
Sample collection is a straightforward procedure, typically involving either a small blood draw or the collection of a saliva sample using a specialized kit. Since the BRCA mutation is a germline alteration, both sample types contain the necessary DNA for analysis. The collected sample is then sent to a specialized laboratory for sequencing and analysis.
The laboratory process involves scrutinizing the BRCA1 and BRCA2 genes for any pathogenic variants. The turnaround time for receiving the results generally takes a few weeks, varying by lab and the specific panel of genes analyzed. Results are sent back to the healthcare provider or genetic counselor who ordered the test, who then schedules a follow-up appointment to interpret the findings.
Interpreting and Acting on Test Results
Genetic test results are typically categorized into one of three outcomes, each requiring distinct medical actions. A positive result means a pathogenic mutation in BRCA1 or BRCA2 has been identified, confirming a significantly increased lifetime cancer risk. This knowledge shifts the focus to intensive, risk-reducing strategies overseen by a specialized medical team.
For individuals with a positive result, enhanced surveillance is recommended, involving earlier and more frequent breast cancer screening. This often combines annual mammograms with annual breast magnetic resonance imaging (MRI). Prophylactic surgery, such as a bilateral prophylactic mastectomy, can reduce breast cancer risk by over 90%. To address the high risk of ovarian cancer, a bilateral prophylactic salpingo-oophorectomy (removal of the ovaries and fallopian tubes) is strongly recommended, typically between the ages of 35 and 45 depending on the specific mutation.
A negative result means that no harmful mutations were found in the genes tested. If a specific family mutation was known, a negative result means the individual did not inherit that particular risk. However, a negative result does not eliminate all cancer risk. The individual retains the same cancer risk as the general population, which may still be elevated due to other genetic factors or a strong family history not linked to BRCA.
The third potential result is a Variant of Uncertain Significance (VUS), which indicates a change in the gene sequence not yet classified as harmful or harmless. A VUS does not alter current medical management, as there is insufficient evidence to link it to an increased cancer risk. Most VUS results are eventually reclassified as benign as more data becomes available. Until then, medical decisions are based on the individual’s personal and family history, not the VUS itself.
Practical and Emotional Implications of Genetic Testing
The decision to undergo BRCA testing involves considering financial and emotional factors alongside the medical implications. While the cost of testing varies widely, most health insurance plans cover the expense for individuals who meet the established clinical criteria. For those who do not meet the criteria, out-of-pocket costs are often capped by testing companies.
Understanding genetic privacy is an important consideration, particularly concerning employment and health insurance. The Genetic Information Nondiscrimination Act (GINA) provides federal protection, prohibiting health insurers from using genetic information to determine eligibility or premiums. GINA also bars employers from using this information for hiring, firing, or promotion decisions, though this protection does not cover long-term care, life insurance, or disability insurance.
Learning one’s genetic status carries significant psychological weight, regardless of the result. A positive result can lead to anxiety over future health decisions, while offering actionable information to guide prevention. A negative result can be a source of immense relief, but may also create a sense of guilt toward family members who tested positive. Genetic counseling post-test is crucial for navigating these complex emotions and discussing implications for family planning and communication with relatives.