BRCA testing is a specific type of genetic analysis used to identify inherited changes, or mutations, within the BRCA1 and BRCA2 genes. The name is an acronym for BReast CAncer gene, reflecting their primary association with hereditary breast and ovarian cancers. These genes normally produce proteins that help repair damaged DNA, functioning as tumor suppressors. When a person inherits a harmful mutation in one of these genes, the protein is dysfunctional, leading to a significantly increased lifetime risk for several cancers, including breast, ovarian, prostate, and pancreatic cancer. The test identifies individuals who carry these specific changes, allowing them and their healthcare providers to implement early screening and preventive strategies.
Categories of Testing Facilities
The facilities that perform BRCA genetic analysis fall into three primary categories. Commercial laboratories are the largest segment, offering high-volume testing to physicians across the country.
Academic or hospital-based laboratories conduct genetic testing, often focusing on highly specialized or complex cases. These facilities are generally part of major medical centers and may be involved in research, utilizing newer testing methodologies. Their testing is typically integrated closely with on-site genetic counseling services.
A third category is Direct-to-Consumer (DTC) testing services, which offer limited genetic screening directly to the public without a physician’s order. While some DTC tests are authorized to report on a small number of common BRCA1 and BRCA2 variants, they do not perform the comprehensive full-gene sequencing required for a clinical diagnosis. Any positive result from a DTC test must be confirmed by a clinical-grade commercial or academic laboratory.
Major Commercial Testing Providers
The clinical BRCA testing market is dominated by several large commercial laboratories. Myriad Genetics, historically the first company to offer commercial BRCA testing, remains a significant player with its myRisk Hereditary Cancer panel. This comprehensive test goes beyond just BRCA1 and BRCA2 to analyze many other genes associated with hereditary cancer risk.
Other major providers include Quest Diagnostics and Labcorp, which now incorporates the genetic testing services of Invitae. These companies offer a competitive range of testing options, from a focused two-gene BRCA1/BRCA2 panel to much broader multi-gene hereditary cancer panels. The shift to multi-gene panels has become standard, as they can screen for mutations in genes like PALB2 or CHEK2 that also confer increased cancer risk.
Specialized labs like Ambry Genetics and Fulgent Genetics also provide extensive hereditary cancer panels, often competing on turnaround time and the comprehensiveness of their gene coverage. When a healthcare provider orders a test, they select the specific lab based on factors like insurance coverage, preferred turnaround time, and the panel of genes they wish to have analyzed.
Coordinating the Test: Ordering and Logistics
A qualified healthcare professional, such as a genetic counselor, oncologist, or primary care physician, must be involved in ordering a BRCA test. The first step involves a risk assessment, where the provider evaluates the patient’s personal and family medical history to determine if testing is appropriate based on established clinical guidelines. Once the decision to test is made, the provider completes a test requisition form specifying the exact panel to be run by the chosen commercial laboratory.
Sample collection is typically a simple procedure, most commonly involving a blood draw or a saliva sample collected via a specific kit. Blood is generally the preferred sample type for the most robust genetic analysis, but saliva offers a convenient, non-invasive alternative that can be collected outside of a clinic setting. The collected sample is then securely shipped to the laboratory, usually via overnight express shipping.
The laboratory initiates the analysis upon receipt of the sample and the completed order form. Turnaround time for results has significantly improved, with many labs reporting results back to the ordering physician within 10 to 21 calendar days. This timeframe can be accelerated for patients with an active cancer diagnosis where the result is needed quickly to guide treatment decisions.
Ensuring Accuracy: Lab Quality Requirements
In the United States, all laboratories performing tests on human specimens for health purposes must be certified under the Clinical Laboratory Improvement Amendments (CLIA). This federal program ensures that all laboratories meet minimum quality standards for personnel competency, quality control, and testing procedures.
Many laboratories that perform complex genetic sequencing also pursue voluntary accreditation from organizations like the College of American Pathologists (CAP). CAP accreditation involves rigorous, on-site inspections and proficiency testing programs that hold the lab to a higher standard of operational excellence. This dual certification assures patients and providers that the lab’s equipment is properly calibrated and that the personnel are highly skilled in complex molecular diagnostics.
These quality assurance measures are especially important for genetic tests, where the analysis involves sequencing millions of DNA bases to identify a single, specific mutation. The accreditations confirm that the lab has implemented robust quality checks throughout the entire testing workflow. This regulatory environment is designed to ensure that the test results used for making serious medical decisions are accurate and dependable.