It’s a rare person who remains untouched by breast cancer. According to The American Cancer Society, 3.8 million people in the U.S. are currently living with a history of the disease. Most of us know a friend, family member, work colleague, or neighbor who has been affected—or perhaps you yourself have had a diagnosis. Molly Stuart is one of them. “My aunt was diagnosed with breast cancer when I was only three and passed away ten years later when the cancer spread,” said Stuart, a young mother of two small children. “Her sister, my mom, was diagnosed when I was in high school and then her daughter, my cousin, was also diagnosed.”

For decades, screening for the presence of breast cancer has been limited to mammograms and ultrasounds but now medical technology has advanced with the addition genetic risk evaluation. This approach is now available at mammography, as well as in the High-Risk Cancer Screening Clinic at The Christ Hospital via working with with Invitae, a California-based medical genetics company. “This partnership, coupled with our virtual patient screening tools, genetic counselors, and the High-Risk Cancer Screening Clinic is transformative,” said Burns Blaxall, PhD, Director of Precision Medicine at The Christ Hospital.

Advanced screening includes a HIPAA-compliant chatbot called “Gia”, or “genetic information assistant.” Available online and accessible through smartphone, tablet, or computer, Gia gathers information from patients to help assess if genetic testing is indicated. Screening is recommended for those with a higher-than-average risk for cancer due to family or personal history. “This advanced technology allows us to be more proactive, rather than reactive, in our patient care,” said Dr. Blaxall.

Molly’s mother and cousin had genetic testing, and both were positive for the BRCA1 gene mutation. According to the Centers for Disease Control, a positive BRCA1 or BRCA2 test result can better identify an individual’s risk for breast and ovarian cancers. Although Molly’s primary care physician suggested she wait until her mid-40s for testing—even with her family history—Molly didn’t wait. “My husband was the one who encouraged me to take care of myself and get the genetic test early,” she explained. So, about four years ago, Molly and her sister both decided to get tested. “I was positive for the gene mutation and my sister was negative. For me, it was a chance to prevent cancer instead of treating it.”

Jennifer Manders, MD, surgical oncologist, says genetic testing is an asset and can help identify cancers earlier, if the patient is getting images frequently. “This may be able to increase her options for treatment,” she said. “Less aggressive interventions may be appropriate in the preventative setting, prior to a diagnosis. These include medications and lifestyle modifications.”

Dr. Manders is Molly’s surgeon. “From the beginning, Molly has been very aware and well educated,” she said. “She’s made decisions about her fertility options, when the time would be right to consider surgery, and even decided to have children before she pursued treatment.” But she also explains that waiting has its risks, because “the cancer clock is always ticking as changes occur within the breast".

For the time being, Molly has chosen to alternate between mammograms and MRI testing every six months. “I wanted to have our children first, in case there was some sort of complication," she said.

With cancer, early detection is key. Based on their genetic testing results, Molly’s mother and cousin both opted for double-mastectomy surgery, and both are alive and doing well. Now that her son is four and her daughter will soon be two, Molly herself plans to schedule a date in the coming year for a double-mastectomy. According to Dr. Manders, this surgery reduces a woman's breast cancer risk up to 95%. 

Any individual at a higher-than-average cancer risk is eligible for genetic testing and evaluation at The Christ Hospital's High-Risk Cancer Screening Clinic. Patients are matched with a genetic counselor and, where appropriate, an advanced practice provider. Based on the results, an individualized care management plan is developed, which may include frequent screenings, medication, or lifestyle modifications. The clinic staff also includes medical and surgical oncologists for those patients in need of advanced preventative care, diagnosis and treatment.

Molly says genetic testing gave her the ability to make life-affirming decisions for herself and her family. Her mother now helps with the care of Molly’s children—her grandchildren—and Molly fully expects to attend their graduations and weddings, and to one day play with her own grandchildren. “I want to encourage other women that genetic testing can help prevent breast cancer,” she said. “It really does save lives.”