Mary Katherine Melroy, 40, was relieved when a mammogram in November 2020 found the lump she found in her breast was nothing to worry about. Worrying, however, was their risk assessment score for developing breast cancer.
She was sent to the High Risk Breast Assessment Clinic at the MUSC Hollings Cancer Center, where she met with a genetic counselor and ran tests to look for clues that might put her at a higher risk of developing an inherited form of breast cancer. That’s when she learned that she had a pathogenic mutation in the CHEK2 gene and had a 25-39% chance of developing breast cancer in her lifetime – more than twice the risk of the average US woman. The mutation also increases their risk of developing colon and thyroid cancer.
Instead of panicking, Melroy was comforted by the news. It gave her the answers she was looking for when her mother was diagnosed with breast cancer 10 years ago at the age of 58.
“It was really a relief because it made sense,” said Melroy, who never understood how breast cancer can affect a woman as petite, healthy, and fit as her mother. “I wasn’t afraid to know I had this mutation. It put the ball in my field to do what I have to do. “
Melroy went to work researching her mutation and learned that opting for bilateral mastectomy – an operation to remove both breasts – could reduce her risk of breast cancer to 5%. After watching her mother struggle with the side effects of chemotherapy, she decided to do everything in her power to reduce her risk of going through the same thing. She plans the operation towards the end of 2021.
Knowing that she is at increased risk of cancer empowers Melroy as she feels she has options for shaping her future.
“As an adult, there are very few things that I can control, but this is part of the health puzzle that I am in control of. I would rather have an operation than go to checkups twice a year because I felt like we were just waiting to find something, ”said Melroy, who also wants to talk to her doctor about early colon cancer screening .
“There is so much you can do when you have the knowledge. A lot of people are scared of the idea of genetic testing, but what scares me is to see what happened to my mother. “
A “hot topic”
At Hollings, the demand for genetic testing has increased 422% over the past year. In response to that genetic counseling program is the largest ever and employs a total of six consultants, two of whom provide full-time on-site services for Hollings patients.
While genetic testing grew in popularity in 2013 following a Supreme Court case that allowed more than one company to test for certain genetic mutations, it is becoming more common as testing guidelines expand to more people. It is now recommended that all patients with pancreatic, ovarian, and high-risk prostate cancer be referred for testing, and discussions are in progress to include all breast cancer patients.
According to Libby Malphrus, a local Hollings consultant, the Hollings program’s ability to grow with demand is one thing that makes it unique.
“There is a shortage of genetic counselors nationwide. People’s access to genetic counselors at Hollings is vast and something most major healthcare systems strive for, ”said Malphrus. “We have a variety of advisors and different ways in which we can offer this service, including through telemedicine, and that is a great advantage.”
As the program continues to grow, genetic counseling is currently only available to current cancer patients or those who have a family history of high cancer risk. For patients who already have cancer, genetic testing can help inform their treatment plans, from determining what surgical techniques should be used to how aggressively the cancer should be treated.
It can also determine if there is a risk of developing other types of cancer and whether their family members may need increased monitoring.
While the information found could potentially be life-saving for cancer patients and their families, Charly Harris, the program’s other full-time genetic counselor, reminds patients that testing is also associated with risks.
“When someone is diagnosed with cancer, they don’t want to think about whether there are other cancers that they might be at risk for. Their diagnosis is often already a big surprise to them, so adding additional cancer risks at this point can be too much information, ”said Harris, who noted that Hollings consultants meet with patients prior to the test to discuss the pros and cons Disadvantages to discuss.
Malphrus added, “It’s hard enough for individuals to battle their diagnoses and observe the emotional impact on their families without thinking that they might pass this gene on to their children. This is a lot of information, so we don’t want anyone to think they should be tested just because they have cancer. “
Melroy understands that the information obtained through her tests affects not only her own health, but that of her sisters, brother, and children as well. She already plans to have her 6-year-old daughter tested when she is old enough.
As the technology used in genetic testing becomes faster and more efficient, Malphrus and Harris admit that much is still unknown about how the results are used. Finding a mutation by testing more genes won’t help if the counselors don’t know what that mutation means.
For this reason, it is important that patients have the tests performed by a genetic counselor who is trained in medical genetic testing, as opposed to companies that offer DNA testing directly to consumers. Direct-to-consumer tests only examine a small number of genes and give an incomplete picture of potential health risks. The Hollings test looks at up to 84 genes known to be associated with an increased risk of cancer.
Why cancer screenings are still important
While certain cancers, such as breast and ovarian cancer, are more closely associated with hereditary factors than others, most cancers are not inherited. In fact, only 5 to 10% of breast cancers and 20 to 25% of ovarian cancers are hereditary, which is why regular cancer checkups are important regardless of the results of genetic tests.
“People often think, ‘I don’t have a family history so this isn’t going to happen to me,'” said Harris. “I always remind my patients that they are still at general population risk for all cancers. Just because we’ve reduced the risk of hereditary cancers doesn’t mean they don’t need further screening. “
Individuals can lower your risk of cancer through lifestyle choices such as maintaining a healthy weight and diet, getting regular exercise, avoiding smoking, and following their preventive measures. You will also receive the HPV vaccine can protect against six types of cancer.
While Harris and Malphrus both entered genetic counseling because of their love of science, they agree that the most rewarding part of their job is giving patients a sense of control over something they often believe they do can not change.
“Genetics is complicated and getting more and more complex,” says Malphrus. “It is rewarding to be that bridge between science and medicine, helping people make informed decisions that are best for themselves and their families.”