New England Regional Genetics Group

Genetics and the Red Carpet

by Jennifer Walsh Schwab

Jennifer Walsh SchwabDriving into work on Tuesday morning I was listening to my favorite morning radio station, thinking about what the day would bring. I had two patients scheduled before lunch, both referred to discuss their family history of early onset breast cancer. Almost as if the DJ could hear my thoughts she announced “Angelina Jolie undergoes a preventative double mastectomy in a dramatic decision to reduce her risk of developing breast cancer, details after this message from our sponsors.” I was hooked. I sat in my car until the segment continued and learned that Angelina Jolie carried a BRCA1 mutation. Her story was published as an OpEd in the New York Times revealing her personal struggle with learning of her genetic predisposition to breast and ovarian cancer and her decision for risk reduction.

As a genetic counselor it is important to be aware of these types of stories so we know what information (and misinformation) our patients may be receiving through the media. Angelina Jolie did a beautiful job of sharing her own personal decision to reduce her breast cancer risk and clearly recognized that while this was the right choice for her it may not be the right choice for every woman. The international media frenzy that ensued took on many angles, but the strongest was support for Angelina and her brave choice. Reading the news stories, many were left wondering, when making this decision what were her options?

Angelina Jolie at awards for UnbrokenWhen faced with an up to 87% risk for breast cancer (closer to 65% risk for women with a BRCA1 mutation) risk reducing options include: risk reducing surgery, the use of medications to reduce the risk of breast cancer, and increased screening with annual mammograms and breast MRI. In addition to the increased risk for breast cancer, the risk of ovarian cancer can be as high as 44%, which comes with another set of risk reducing options including surgery and increased screening. All of these options come with their fair share of benefits and limitations. To truly make an informed decision a woman should be aware of these options, discuss details with the appropriate providers, and consider what option is the most empowering for her to take control of these risks.

One detail that cannot be overlooked is the fact that of all the breast cancer diagnoses each year, only 5-10% are due to an inherited genetic predisposition (and 10-15% of ovarian cancer diagnoses), such as a BRCA1 or BRCA2 mutation. Many national organizations and insurance companies have set specific guidelines for who should consider BRCA1 and BRCA2 genetic testing based on personal and family history. The Guidelines from the National Cancer Institute include:

  • 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);
  • a first-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

Just reading this menu of options on a blog post can be overwhelming for women, and that’s where genetic counselors come in. We can help a woman make sense of these options in the context of her own family and personal history, as well as the many psychosocial factors that contribute to risk interpretation and the decision making process. Even before considering these preventative options one of the more difficult decisions is, to test or not to test? For some women this test feels truly empowering, for others it can feel overwhelming.

After learning the news on the radio, I walked into my office and greeted my first client. She introduced herself and said, “Did you hear Angelina Jolie had a double mastectomy? Is that what I’m here to talk about?” And just like that, Angelina Jolie had made her way into the genetics clinic.