Do I Need Genetic Testing?

Angelina Jolie, the movie star, director and humanitarian, changed the face of women’s health single handedly when she revealed to the world that she carried a gene mutation that put her at high risk for breast and ovarian cancer. She practically shocked the nation when she underwent two separate surgeries to have her breasts, ovaries and fallopian tubes removed in order to significantly reduce her own risk. By telling us her story, Angelina helped start an important conversation about who is at higher risk for these specific cancers and needs genetic testing. As it turns out, not all of us do. In fact, most of us don’t.

Let’s start out with a history lesson. There are two main genes responsible for increasing the risk of breast and ovarian cancer. BRCA1 was identified in 1994 and BRCA2 in 1995. We all carry these normal genes. Their role is to repair cell damage and make sure that breast and ovarian cells grow normally. But if either gene has a mutation, breast and ovarian cells can grow abnormally and transform into cancer.

Mutations tend to be passed down from generation to generation, increasing the risk of these cancers in certain families, especially of Eastern European Jewish descent. This mostly affects women, but men can inherit this gene and get breast cancer too. When considering your own risk, look into your family history to see if anyone has had a diagnosis of either breast or ovarian cancer, especially at a younger age. These cancers tend to present themselves in the mid 30’s and 40’s. The good news is that only 1-2% of us have inherited this gene mutation. That means that 98% of us do not have to worry about genetic testing, because we do not have a higher risk of breast and ovarian cancer due to our genetic inheritance!

So should you get genetic testing? This is a scary and confusing question for most women, so the first step is to have a discussion with your gynecologist. Your family history is the most important factor when considering genetic testing. Do you have a first degree relative (mother, sister, daughter) with breast or ovarian cancer? Angelina Jolie’s mother was diagnosed with ovarian cancer in her 40’s and subsequently died in her mid 50’s. That is the kind of family history that sends up a bright red flag. If you and your health care professional think that you are a candidate for testing, your next step is to see a genetic counselor who is specifically trained to review your actual risk and make the final determination of whether or not you need testing. This is an important part of the process. It really takes a team of experts to help guide you in the right direction.

The BRCA blood test costs around $3000 and is not always covered by insurance, so if you do not need genetic testing, you should not get it.

If you test positive for the BRCA 1or 2 mutation, the final step will be surgery. You and your team will determine the specifics of that step. Now listen very carefully. This is the time when you should add another player to the group discussion, an expert in menopausal medicine. The removal of your ovaries will put you into surgical menopause, and the symptoms of hot flashes, night sweats, fatigue, mood changes, reduced libido and brain fog are usually much worse for those women who go through surgical menopause than for those who go through it naturally. Even more importantly, you will be at much higher risk for heart disease, dementia and osteoporosis once your ovaries are removed and you are no longer making estrogen.

I take care of a lot of women who carry the BRCA gene mutation. I usually meet with them before they are scheduled for surgery, so I can help explain what life will be like afterwards. It is my job to reduce fear and clear up the confusion that comes with facing early menopause. I always recommend having the uterus removed at the same time as ovaries and fallopian tubes, because it will make the use of hormone therapy much more straightforward and safer. This is not the decision that Angelina Jolie made. She kept her uterus, started estrogen therapy for the relief of menopausal symptoms and protection against major medical issues and had an IUD inserted to protect the uterine lining. That IUD will have to be removed in 5 years and replaced with a new one. My best advice is to skip all those extra years of potential uterine bleeding, maintenance and expense.

The bottom line regarding genetic testing and the choices you may face afterwards is that you will not have to go it alone. As the holidays approach and families gather, it is a perfect time to check out your own family tree!

Tara Allmen, MD Credentials:
– Board Certified Gynecologist and Nationally Certified Menopause Practitioner
– New York City’s Leading Expert In Menopause
– President, North American Menopause Society Foundation
– Fellow of the American College of Obstetrics and Gynecology
– New York City’s Top Gynecologist, 2015
– Five Star Rating From Doctor’s Choice Awards
– Five Star Rating From HealthGrades