Which Genetic Test Should I Undergo?

The first step in genetic testing for genetically predisposed breast cancer is a consultation with a genetic counselor or a breast cancer specialist. A genetic counselor or the physician will help you decide which genetic test is right for you, taking into consideration the following:

  • If you are Ashkenazi Jewish (Eastern European Jewish) with a diagnosis of breast or ovarian cancer at any age, or have a first-degree relative with breast or ovarian cancer at any age, a test for 3 common (“founder”) mutations seen in the Ashkenazi Jewish population may be offered as a first step.

  • If there is a known gene mutation in a member of your family, usually, as a first step, you will be tested for only that mutation. Be sure to bring the test results of that family member to your consultation.

  • If there is no known gene mutation in your family, but you qualify for genetic testing based on either criteria, testing options may include a BRCA1/2 test or multigene panel as follows:

    -You may be offered testing for the BRCA1 and BRCA2 gene mutations alone.

    -Since 2013, multigene testing (testing for not only BRCA1 and BRCA2 but other genes known to contribute to risk for breast, gynecologic, colon, and other cancers) has become preferred. Your genetic counselor or physician will recommend which of the many multigene tests is most appropriate for you.

    -If you are a woman who was diagnosed with breast cancer at age 35 or younger, you should have testing for a TP53 gene mutation, which is included in many of the multigene panels.

    -If you had previous genetic testing prior to 2012, you may not have had specialized duplication and/or deletion analysis. If your previous BRCA testing was negative, you may want to ask your physician or genetic counselor about additional testing that is currently available. Modern BRCA testing involves both “sequencing” and “duplication/deletion analysis.” Many insurance plans are now covering “update testing” for those women who were tested prior to 2012 and found to not carry a mutation. If you are interested, speak with your physician or genetic counselor about this option.

Currently, most insurance companies only pay for 1 test during your lifetime related to genetic cancer risk, so the choice of which test to perform is important.