Angelina Jolie turned the world’s attention to the BRCA genetic testing when she underwent prophylactic mastectomy to prevent breast cancer. But this test is not just for movie stars.


If you have a family history of cancer, particularly breast or ovarian cancer, your level of anxiety and concern about developing cancer can be distracting. The BRCA test can help you understand your risks and take meaningful action to reduce that risk.


If you yourself have had breast or ovarian cancer, it is important to know if you carry a gene that could affect your children or other family members. Added precautions may be life saving for your sister or daughter.


BRCA testing is a simple blood test that checks for mutations in the genes that predict breast and ovarian cancer. Only 0.1-0.2% of the general population has the BRCA mutation, and so most people do not need to be tested for it. But those who have a strong family history of cancer are much more likely to have the mutation and so should be tested.


Family history of breast or ovarian cancer


If you are concerned about your risk of developing breast or ovarian cancer because of your family history, but have not had breast cancer yourself, you need a complete assessment of your genetic risk. We start with a complete family history including each affected family member, their relation to you, the age at diagnosis, and the type of cancer they had.


Blue Cross Blue Shield has defined risk categories for determining who needs to be tested for BRCA, and thus who will have the cost of their test covered by insurance. Most insurance companies have similar criteria; they are based on the National Comprehensive Cancer Network (NCCN) guidelines and the US Preventative Services Task Force (USPSTF) recommendations.


First some definitions. A first degree relative is a son or daughter, sister or brother, mother or father to you. A second degree relative is a half sibling, aunt or uncle, niece or nephew, grandchild, grandmother or grandfather. A third degree relative is a cousin, great-grand parent, or great-grandchild.


BRCA testing is indicated if you have multiple 1st or 2nd degree relatives affected by breast or ovarian cancer depending on their age at diagnosis. If the cancer was in both breasts, in a male relative, or associated with ovarian cancer as well, risk is even higher.


If you do not meet the current guidelines for BRCA testing, your insurance company is unlikely to cover the cost of the test. But you are still welcome to get the test done at your own cost. In most cases the cost of the test is around $1000.


What if the test is positive? 


If positive results are obtained, preventative treatments are available including prophylactic surgery, intense surveillance, and chemoprevention. Like Angelina Jolie, you can have a mastectomy with implant placement, and reduce your risk substantially, but no one can guarantee you won’t get cancer in microscopic remaining tissue.


Likewise, ovarian cancer risk is dramatically reduced by removing the ovaries, but residual tissue in the pelvis can still develop a cancer that is indistinguishable from classic ovarian cancer. This is rare, but not impossible. Prophylactic removal of the ovaries would entail immediate onset of menopause with hot flashes and other health concerns, and hormone replacement may or may not be advisable.


If surgery is not elected, intensive surveillance with mammograms, ultrasounds, CT or MRI scans, and frequent clinical examinations may help detect a cancer at a curable stage, but this cannot be ensured. Breast cancer is generally easier to detect than ovarian cancer.


If you have had breast cancer.


If you have had breast cancer yourself, you may carry the BRCA gene that causes both breast and ovarian cancer, posing a risk to yourself and your family. Not everyone with breast cancer has this gene, but those who do can transmit it to their children genetically.


The risk of BRCA is higher if your initial cancer was detected before the age of 45-50, or if a family member also has cancer of either the breast or the ovary. Some types of breast cancer are more likely to be associated with the BRCA gene than others.


Again, if you do not meet criteria for insurance coverage for BRCA testing, you are still permitted to obtain the testing at your own cost. Concerned family members may be willing to help you cover the cost of the test.


Additional genetic tests are available to detect a wide assortment of cancers and genetic conditions. These tests are considered investigational by most insurance companies, and the interpretation of the results can be difficult.