Genetic testing in breast cancer

I would love to say that my life has never been touched by the dreadful reality of breast cancer. I would love to say that I have not personally been affected by losing a friend or a patient to metastatic breast cancer. I would also love to say that we have a screening test for ovarian cancer and that we usually can diagnose ovarian cancer early in the course of the disease. However, because none of those statements are true, I am left sharing with you my realistic life encounters as experienced in this day to day journey.

I am sure by now that many of you have heard or read that Angelina Jolie, beautiful actress engaged to Brad Pitt and famous for her role in “Lara Croft: Tomb Raider” recently underwent a preventive double mastectomy, surgical removal of the breast. Jolie, at age 37, found out through genetic testing that her likelihood of developing breast cancer was high, about 87 percent. With that information, she decided to prophylactically remove both breasts which decreased her chances of developing breast cancer to less than 5 percent.

Ms. Jolie had a rare genetic mutation called BRCA1. Breast cancer susceptibility genes, BRCA1 and BRCA 2 only account for about 5 percent of breast cancers and 10 percent of ovarian cancers. The genes are tested via a blood test that utilizes DNA analysis to detect the inherited harmful genetic changes. Less than 1 percent of women carry this faulty gene therefore universal genetic testing is not recommended.

Per the various news outlets, Angelina’s mother died at age 56 of ovarian cancer and her maternal aunt recently died of breast cancer. And because of that strong family history, Ms. Jolie and her doctors opted for genetic testing and ultimately decided for removal of both breasts and subsequent breast reconstruction.

The National Cancer Institute, NCI, estimates approximately 232,340 new cases of breast cancer in females in 2013 and roughly about 39,620 deaths. Per the NCI website, there are some familial patterns of cancer that are more likely associated with the BRCA 1 and BRCA 2 mutations.

For women who are not of Ashkenazi Jewish descent:
- two first-degree relatives (mother, daughter, or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger;
- three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis;
- a combination of first- and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person);
- afirst degree relative with cancer diagnosed in both breasts (bilateral breast cancer);
- a combination of two or more first- or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis;
- a first- or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis; and
- breast cancer diagnosed in a male relative.

Again, I reiterate that genetic testing is not recommended routinely and is not needed for every situation. The testing is expensive and can range anywhere from a few hundred dollars to several thousand. In addition, the amount covered by insurance may vary per carrier.

Patients opting for the test must also then be prepared to decide what to do with the information. Those genetic results are placed in your medical record and are not protected from discrimination from disability and life insurers. However, discrimination in employment and health insurance as a result of genetic information is prohibited by federal law. With that in mind, I’m certain that Angelina contemplated her decision carefully before proceeding.

I think it is also important to point out that mastectomy was the preventive procedure of choice for this particular situation with Ms. Jolie but the majority of breast cancers which are not associated with the BRCA mutations can be optimally treated with a procedure called a lumpectomy, removal of the specific lesion and sparing the breast. Since this story hit the news, many doctors worry that patients will now feel that removing the breast is always the best decision. On the contrary, lumpectomy was proven years ago to be just as effective as mastectomy.

So if I had to leave you with a few take home points, I would say: