As a certified genetic counselor for St. Elizabeth Healthcare’s Hereditary Cancer Program, Justine Snyder understands how genetic testing can help patients assess their genetic risk factors and make informed decisions about their treatment.
But it wasn’t until she underwent genetic testing herself that she fully appreciated how empowering – and potentially life-saving – testing can be.
Both sides of Snyder’s extended family have a history of cancer. On her father’s side, an aunt and four great aunts died from ovarian cancer. On her mother’s side, Snyder’s grandmother, great aunt and great grandmother all had cancers that can have genetic ties.
Given her family history, Snyder and her gynecologist agreed she should undergo testing, but, because she was healthy and no first-degree relative had been diagnosed with cancer, Snyder says she didn’t feel a profound sense of urgency.
“As a counselor I knew if a mutation was identified in a gene that predisposed me to develop cancer, I would take action, and I wasn’t in a place in my life where I felt I was ready to do that,” she says. “I was working and earning my masters and getting ready to send my son to college. I put it off until I knew I could handle the situation if I found something.”
By October, life had settled down, and Snyder, then 49, decided it was time to be proactive. She went to St. Elizabeth’s Hereditary Cancer Program not as a genetic counselor, but as a patient.
Two week later she received a shock: the test was positive for BRCA 1. Women with the BRCA 1 mutation have a 50 to 87 percent chance of being diagnosed with breast cancer and up to a 50 percent chance of being diagnosed with ovarian cancer over their lifetime. BRCA 1 mutations are also associated with pancreatic, stomach and melanoma skin cancers.
“It was frightening. I was truly in shock, and I felt like I had a ticking time bomb inside,” she says. “I understand the genetics, and I know the doctors, but my reaction was just like any other patient’s.”
Snyder immediately met with a surgeon at St. Elizabeth. The first order of business was to make sure she didn’t already have cancer. A breast MRI, ovarian ultrasound and CA-125 test (an ovarian cancer marker test) were all clean. The next step was deciding what she wanted to do with the information she had. Snyder chose to undergo a double mastectomy with expanders for reconstruction and laparoscopic hysterectomy including removal of the ovaries and fallopian tubes. Other women, depending on their age, circumstances and the recommendations of their physicians might choose another course, but for Snyder, “That was the right decision for me.” Snyder hopes to have her breast reconstruction completed by the summer.
“That’s the takeaway message,” she says. “Genetic testing is very empowering. It gives you information and options: You are the decision maker. I feel like I was given a gift and an opportunity.”
To learn more about St. Elizabeth’s Hereditary Cancer Program or to discuss whether genetic testing is right for you, please call (859) 301-5396.
