Genetic Testing and Breast Care

Angelina Jolie’s decision to tell the world she had a preventive mastectomy has opened up the conversation about genetic testing.  Jolie decided to have a mastectomy because she tested positive for a BRCA gene mutation; women with the BRCA1 or BRCA2 gene mutations are at much higher risk for developing breast cancer than women without them. 

But is genetic testing right for you? The answer to this question is very personal and one that you should make with the help of a doctor with expertise in breast cancer risk evaluation  and/or with a genetic counselor who will utilize guidelines that determine who is appropriate for testing.   Breast cancer susceptibility mutations are hereditary, so knowing your family history of cancer – not just breast cancer but all cancers – is very important. 

For example, if there is a history of breast or ovarian cancer in your family, a first step could be to obtain a detailed personal and family history to determine if testing is appropriate.  Testing is usually recommended first for family members who have or have had breast or ovarian cancer.  If a family member tests positive for a BRCA1 or BRCA2 mutation, then you and other family members may wish to be tested also. 

We strongly recommend that women who know they have a blood relative with the BRCA1 or BRCA2 mutation consider genetic counseling, to learn more about their risks and to determine if they should consider testing, and then to help understand the results of testing and determine the next steps for cancer screening and risk reduction.  BRCA 1 and 2 are not the only breast cancer susceptibility genes, so genetic counseling helps tailor testing to target the appropriate genes.

The test for the BRCA1 or BRCA2 mutation is a blood or saliva test.  Insurance coverage for genetic counseling and testing varies among different policies, so it is also important that you find out your insurance company’s policies regarding genetic testing.  In all, a very small percentage - between 0.125 and 0.25 percent of women - will test positive for a BRCA mutation.

Decisions like these are often among life’s most difficult.  There is no one right answer for everyone.  We encourage you to find your own right answer. 

Tara Breslin, MD, MS

Breast Surgeon/Oncologist

Medical Director, Breast Care Program

Northwestern Lake Forest Hospital