Mary Katherine Melroy, 40, was relieved when a mammogram in November 2020 determined that the lump she found in her breast wasn’t a cause for concern. What was concerning, however, was her risk assessment score for developing breast cancer.
She was referred to the High-Risk Breast Evaluation Clinic at MUSC Hollings Cancer Center, where she met with a genetic counselor and completed testing to search for clues that may have put her at a greater risk of developing an inherited form of breast cancer. That’s when she learned she had a pathogenic mutation in the CHEK2 gene and a 25% to 39% chance of developing breast cancer in her lifetime – more than double the risk of the average U.S. woman. The mutation also increases her risk of developing colon and thyroid cancer.
Instead of panicking, Melroy was comforted by the news. It gave her the answers she’d been searching for when her mom was diagnosed with breast cancer 10 years ago at the age of 58.
“It was actually a relief because it made sense,” said Melroy, who never understood how breast cancer could affect someone as petite, healthy and fit as her mom. “It didn’t give me anxiety to know I had this mutation. It put the ball in my court to do what I need to do.”
Melroy got to work researching her mutation and learned that opting to have a bilateral mastectomy – a surgery used to remove both breasts – could reduce her risk of breast cancer to 5%. After watching her mom struggle with the side effects of chemotherapy, she decided she wanted to do everything in her power to reduce her risk of going through the same thing. She plans to get the surgery toward the end of 2021.
Knowing she’s at increased risk of cancer is empowering for Melroy, as she feels like she has options for shaping her future.
“As an adult, there are very few things that I feel like I can control, but this is a piece of the puzzle of my health that I can take control of. I’d rather get the surgery than go in for screenings twice a year because I’d feel like we were just waiting until we found something,” said Melroy, who also plans to talk with her doctor about getting screened early for colon cancer.
“There’s so much you can do when you have the knowledge. A lot of people are scared at the thought of getting genetic testing, but what’s scary to me is looking at what happened to my mom.”
A hot topic
At Hollings, the demand for genetic testing has risen 422% in the last year. In response, the genetic counseling program is the largest it has ever been, employing six counselors total, two of whom provide full-time onsite services for Hollings patients.
While genetic testing’s popularity took off in 2013 following a Supreme Court case that allowed more than one company to test for certain genetic mutations, it continues to become more common as testing guidelines expand to include more people. It’s now recommended that all pancreatic, ovarian and high-risk prostate cancer patients be referred for testing, and talks of including all breast cancer patients are in the works.
According to Libby Malphrus, one of Hollings’ onsite counselors, the ability of Hollings’ program to grow with the demand is one thing that makes it unique.
“There’s a shortage of genetic counselors nationally. The access people have to genetic counselors at Hollings is huge and something most large health care systems strive for,” said Malphrus. “We have a multitude of counselors and various ways in which we can deliver that service, including through telemedicine, and that’s a huge asset.”
Because the program is still growing, genetic counseling currently is only available to current cancer patients or those deemed at high risk of developing cancer based on their family history. For patients who already have…