In the fall of 2020, Julie Reed went to the CAMC Breast Center for her annual mammogram. While she was there, her sister — who works as a nurse at the Breast Center — encouraged her to take advantage of a new service available for Breast Center patients: genetic testing.
During her visit, Reed filled out a questionnaire and discovered she was eligible for additional genetic testing due to her background. Following her mammogram, she went downstairs and had blood drawn.
A few weeks later, her results came back. To her surprise, she was positive for mutations of the BRCA II gene, among others. Research has shown that people with mutations in the BRCA1 or BRCA2 genes are at an increased risk of developing breast and/or ovarian cancer.
According to national guidelines, women with an increased risk for breast cancer may need earlier or more frequent breast screening and may need to consider preventative options, which can include surgery to remove the breast or other affected parts of the body.
“Genetic testing is the first step,” said Amy Beaver, RN, patient navigator at the Breast Center. “It doesn’t mean you have cancer or even that you necessarily need surgery to remove your breasts or ovaries. It just means that we need to create a care plan that helps you manage that risk.”
In Reed’s case, she had a few options.
“I had cysts on my ovaries that were concerning so I had my ovaries removed,” she said. “But when I’d had breast biopsies in the past, they’d always come back benign. The surgeon who removed my ovaries at another hospital wanted to be more extreme and referred me to a surgeon for a mastectomy, but when I saw Dr. Elmore at CAMC, he said that wasn’t necessary if I didn’t want to.”
Working with Michael Elmore, M.D., surgical oncologist at CAMC, Reed developed a care plan that involves increased surveillance and careful monitoring with a mammogram and breast MRI twice a year. “I was relieved he took a less extreme approach,” Reed said.
“I’d tell anyone considering genetic testing to do it,” she said. “I know someone is keeping a close eye on things with more advanced imaging, and I’m getting checked twice a year — not just once a year — so I don’t have to worry as much.”
Breast cancer risk
According to the American College of Radiology, one in eight women will develop breast cancer during their lifetime. For the average-risk population, it is recommended that women have annual screening mammograms starting at age 40.
Many medical, hereditary and lifestyle factors can increase a woman’s risk of developing breast cancer. Such factors can include age, family history, age at menarche, obesity and more. However, while family history can be a factor, more than 75% of women who develop breast cancer have no family history.
When determining if genetic testing is appropriate, many factors are taken into account. The Ambry CARE program utilized at CAMC uses both the National Comprehensive Cancer Network and Tyrer-Cuzick risk scores to determine if patients meet certain criteria for genetic testing and, if needed, modified breast imaging. Patients fill out their information and are given a “risk score,” which is used to work with the physician to determine the best course of action moving forward.
Genetic testing and breast cancer screenings
Genetic testing for breast cancer is available for patients of the CAMC Breast Center, CAMC Obstetrics and Gynecology Center and CAMC Cancer Center. Most insurance providers will cover all or a portion of the cost of genetic testing, so it is both affordable and accessible for the majority of patients.
In addition, family members of patients who test positive for certain mutations may qualify for free testing.
CAMC Imaging Services provides a wide array of diagnostic options, including:
• Screening and 3D mammography
• MRI breast imaging
• Breast ultrasound.
Services vary depending on which location you visit. To schedule an appointment at one of CAMC’s four convenient locations, call 304-388-9677.