Testing for abnormal breast cancer genes such as BRCA1, BRCA2, and PALB2 is usually done on a blood or saliva sample taken in your doctor’s office and sent to a commercial laboratory or a research testing facility. Most people have it done by a commercial lab. During testing, the genes are separated from the rest of the DNA, and then they are scanned for abnormalities.
Often, the type of genetic testing that's done and the specific genes being tested dictate whether testing in a research setting is possible. Research labs tend to perform free and anonymous testing. But they may provide limited results or require multiple family members to participate. In addition, test results may not be available for many months or years, and sometimes they're not available at all.
In the United States, several laboratories perform commercial BRCA1, BRCA2, and PALB2 testing, including Myriad Genetic Laboratories, Ambry Genetics, and GeneDx. They report results within 2 to 4 weeks. Abnormalities in other genes have also been associated with breast cancer risk. BRCA1 and BRCA2 mutations are the most common cause of hereditary breast cancer. Right now, PALB2 and other breast cancer gene abnormalities appear to be a less common cause of breast cancer, although testing for many of these genes is now also available. People choosing to undergo genetic testing may choose to be tested for only the BRCA1 and BRCA2 genes or to have multiple breast cancer-related genes tested together through a panel test. The cost of testing ranges from approximately $300 to $5,000, depending on whether you are being tested for only a specific area(s) of a gene known to be abnormal or if hundreds of areas are being examined within multiple genes.
Because different types of genetic abnormalities are detected by different test methodologies, it is important to be aware of the technical test type being performed. Gene sequencing detects the majority of genetic mutations. However, this test method cannot detect large mutations or genetic rearrangements that may occur within the genes. Therefore, testing the genes for large-scale mutations is also recommended. Most laboratories offering testing will perform both types of tests at the same time. If your testing was done in the past, it is possible screening for large-scale mutations was not performed. Inquire with the physician or genetic counselor who ordered testing to confirm what types of testing were completed and whether you may be eligible for any additional testing.
Find out if your insurance plan will cover genetic testing — many insurance plans do. The 2008 Genetic Information Nondiscrimination Act (GINA) protects against discrimination by health insurance plans based on an individual’s genetic information. However, if you're still concerned about your privacy, you may pay for the testing yourself and submit your blood sample under a code number or an assumed name. If you opt for the latter, choose a name you can remember easily — and stick to it. In addition, GINA does not extend to life insurance, so securing life insurance coverage prior to genetic testing is suggested.
In 1988, the U.S. Congress passed the Clinical Laboratory Improvement Amendments (CLIA) to ensure quality standards and the accuracy and reliability of results across all testing laboratories (except research). Genetic testing should be performed by a CLIA-approved facility.