BRCA testing identifies inherited changes, or mutations, in the BRCA1 and BRCA2 genes, which are normally involved in DNA repair and tumor suppression. An abnormal change in these genes significantly increases the lifetime risk for certain cancers, most notably breast and ovarian cancer. Obtaining this genetic testing involves several distinct steps, beginning with a personal risk assessment and culminating in a tailored medical management plan. This guide provides a clear pathway for individuals considering testing for these hereditary cancer risks.
Determining Eligibility and Risk
The decision to pursue BRCA testing is guided by specific personal and family cancer histories. Genetic changes in BRCA1 and BRCA2 are rare in the general population, affecting only about 0.2% of individuals, which is why testing focuses on high-risk groups. A strong family history of particular cancers warrants investigation, including multiple relatives diagnosed with breast cancer, especially before age 50, or any relative diagnosed with ovarian, fallopian tube, or peritoneal cancer at any age.
The risk assessment also considers rarer cancers associated with these genes, such as male breast cancer, pancreatic cancer, or high-risk prostate cancer. Furthermore, a known BRCA1 or BRCA2 mutation in a close blood relative immediately qualifies an individual for testing. Other qualifying factors include having Ashkenazi Jewish ancestry combined with a family history of breast cancer, or a personal diagnosis of triple-negative breast cancer or two separate primary breast cancers.
The Role of Genetic Counseling
Before any sample is collected, pre-test counseling with a genetic counselor or a healthcare professional trained in genetics is required. This counseling ensures the individual understands the implications of the test and helps determine the most appropriate testing strategy. The counselor reviews the patient’s personal and family medical history to confirm the likelihood of a mutation and select the correct testing panel, which may include a multigene panel instead of just BRCA1 and BRCA2.
The session focuses on informed consent and discussing potential outcomes, including positive, negative, and Variant of Uncertain Significance (VUS) results. Counselors explain the psychological and familial impact of these results. They also discuss privacy concerns, such as protections offered by the Genetic Information Nondiscrimination Act (GINA), and the potential for sharing results with at-risk family members.
Mechanisms for Ordering the Test
The most common and comprehensive method for ordering BRCA testing is through the standard medical pathway, involving a physician or specialist. Following genetic counseling, the counselor or a physician, such as an oncologist or OB/GYN, will submit the test order to a clinical laboratory. This process usually requires pre-authorization from the patient’s health insurance provider to confirm coverage and minimize unexpected costs. For women who meet specific criteria, the Affordable Care Act (ACA) mandates that most private health plans cover genetic counseling and testing for BRCA1 and BRCA2 without patient cost-sharing.
Sample collection typically involves a blood draw at a clinic or a saliva sample collected via a kit. Results often take a few weeks before the report is returned to the ordering provider. An alternative is the direct-to-consumer (DTC) testing pathway, which does not always require a physician’s order. However, DTC tests often screen for only a limited number of common BRCA mutations and should be confirmed by a clinical-grade test before any medical decisions are made.
Financial considerations remain a concern, as individuals not covered by the ACA mandate may still face out-of-pocket expenses, making pre-authorization necessary. Clinical testing is always recommended over DTC for comprehensive risk assessment, as clinical panels analyze the entire gene sequence to detect all pathogenic changes.
Understanding and Acting on Test Results
Once the lab analysis is complete, results fall into one of three primary categories, each with distinct implications for medical management. A positive result confirms the presence of a pathogenic variant in BRCA1 or BRCA2, indicating a significantly increased lifetime risk of cancer. While a positive result does not guarantee cancer development, it necessitates immediate action with specialists. A negative result means no known harmful mutation was found. If a specific mutation was already known in the family, a negative result is a “true negative,” meaning the individual’s risk is similar to the average population.
The third outcome is a Variant of Uncertain Significance (VUS), which indicates a gene change that current scientific evidence cannot classify as benign or pathogenic. Most VUS results are eventually reclassified as benign. Until reclassification, medical management is typically based on the individual’s personal and family history. Following any result, the post-test consultation with the genetic counselor develops a personalized risk management plan with specialists. A positive result often leads to enhanced surveillance, such as earlier and more frequent mammograms and breast MRIs, or discussing risk-reducing options like prophylactic surgery.