A few days before your scheduled mammogram at the Providence St. Jude Kathryn T. McCarty Breast Center, you’ll meet “Ava,” a computer-generated genetic assistant—think sophisticated chatbot—who will gather your personal and family medical history. Answering Ava’s questions on your computer or phone will take 5 to 10 minutes, and once that is completed you will have taken the first step in a state-of-the-art cancer risk assessment that is allowing women to not just identify but minimize their risk.
The information provided in the virtual interaction is evaluated against the most recent genetic research and clinical recommendations, and women who meet the criteria for genetic testing have the option of taking a simple saliva test during their mammogram appointment.
The innovative program is making Providence St. Jude a national leader in identifying high-risk women early, and then offering the best evidence-based strategies to prevent and minimize that risk. “It’s the opposite of the more typical wait-and-see-if-cancer-shows-up,” explains Brenna Chalmers, MD, a board-certified radiologist and breast imaging expert at the McCarty Breast Center. “It’s a forward-looking approach that allows us to be proactive in protecting women.”
The risk assessment and genetic testing are optional, and not all women choose to participate. Michelle Jackson says she hesitated after learning she qualified for genetic testing but found it easy and convenient: “It took two minutes; you just spit into a tube,” explains the 42-year-old mom of three. Shortly after her mammogram results came back negative, a genetic counselor from the McCarty Breast Center called to discuss her genetic test results and Michelle learned she carried a CHEK2 mutation that significantly increased her risk of breast and colon cancer.
Additional screenings were recommended, including an annual breast MRI, which was performed just a few months later—and revealed a stage 0 tumor. A biopsy indicated the small, contained tumor was malignant. She met with David Park, MD, medical director of the Providence St. Jude Crosson Cancer Institute, who leads the hospital’s Personalized Cancer Screening and Prevention Clinic, designed to provide individuals like Michelle with expert assessment and recommendations. She carefully listened as he outlined her options, including having the tiny mass removed via lumpectomy followed by radiation therapy and frequent monitoring.
But the mother of nine-, five- and two-year-olds had just one question: Which option offered the very best chance of raising her children? “When I found out that a double mastectomy would decrease my risk of developing breast cancer by almost 100 percent, my answer was ‘Yes, please,’ ” Jackson explains. “That decision meant resuming the life I wanted to lead, not one where fear is always in the background.”
Last May, her double mastectomy and breast reconstruction were performed together by a Providence St. Jude breast surgeon and plastic surgeon—and she says it already feels like a small blip on the radar screen of her life: “I hardly ever think about it, and when I do, it’s with gratitude that I chose to have a mammogram at Providence St. Jude and said yes to genetic testing.”
Up to 10 percent of all cancers are hereditary and can be traced to a mutation in one of the genes that help protect the body against cancer. The most well known are BRCA1 and BRCA2, found to increase a woman’s breast cancer risk by eight times and five times, respectively—yet among women diagnosed with breast cancer, only 30 percent of those with a BRCA gene mutation have been identified. Over the past decade, dozens of other genetic mutations have been linked to cancers, including PALB2 (associated with increased risk of breast and pancreatic cancers), CDKN2A (melanoma) and RAD51C (ovarian cancer).
Unlike direct-to-consumer (DTC) genetic testing like 23andMe, which look for a small number of mutations, the saliva test performed at the McCarty Breast Center searches for 85 mutations and offers a level of clinical accuracy DTC testing cannot.
Offering comprehensive cancer risk analysis to women scheduling a mammogram is a unique approach made possible through a partnership with Ambry Genetics. The lifesaving benefits are particularly clear for cancers that have no standard preventive screenings. “For cancers such as pancreatic and ovarian that are often diagnosed in later stages, it gives us a way to identify women at high risk and develop screening strategies,” explains Dr. Chalmers.
Without genetic testing and the additional screening, Michelle’s cancer would have gone undetected for at least another year—possibly more. “Sometimes I still catch myself thinking how different this might have turned out and it makes me feel very blessed,” she says. “It may have saved my life.”
That, says Dr. Chalmers, is exactly why the McCarty Breast Center offers a program that pulls together every aspect of testing and care—from a walk-in genetic counseling center and today ’s most advanced diagnostic screenings to a team of experts who specialize in identifying and treating cancer early.
“St. Jude has been at the forefront of using genetic and molecular testing to create breakthroughs in cancer treatment for over a decade,” explains Dr. Chalmers. “It’s appropriate that we are now one of the very first to use it to dramatically improve diagnosis and prevention.”
To schedule a mammogram at the Providence St. Jude Kathryn T. McCarty Breast Center, call 714-446-5650. Our cancer assessment is offered at no charge, and genetic screening for qualified women is covered by most insurance companies. To schedule a mammogram at the Providence St. Jude Kathryn T. McCarty Breast Center, call 714-446-5650. Our cancer assessment is offered at no charge, and genetic screening for qualified women is covered by most insurance companies. To schedule a mammogram at the Providence St. Jude Kathryn T. McCarty Breast Center, call 714-446-5650. Our cancer assessment is offered at no charge, and genetic screening for qualified women is covered by most insurance companies.
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