Last July, Cindi Reichert went to the Providence St. Jude Genetic Counseling and Screening Center and spit into a tube. That saliva sample was tested for nearly 100 different genetic mutations that increase the chance of disease, including cancer. The results showed that Cindi carried a rare BAP1 mutation.
Next step was an appointment with the hospital’s Personalized Cancer Screening and Prevention Clinic, an innovative clinic focused on minimizing risk through careful monitoring. There she met with David Park, MD, medical director of the Crosson Cancer Institute, who described the risks surrounding the BAP1 mutation and outlined a prevention strategy and detailed screening schedule.
“People avoid getting genetic testing because they believe it would be too frightening to learn you have an increased risk of cancer,” explains Cindi, who is 67 and lives in Orange. “It’s just the opposite: there is such confidence and comfort in knowing exactly the right steps are being taken to keep you safe.”
Her optimism was well placed. Several weeks later, a diagnostic scan of her kidneys, the organ most often affected by the BAP1 mutation, showed very early-stage renal cancer. Because it was small and localized, the cancer was ablated, and Cindi became cancer-free in a single afternoon.
This, says Allison Foley, MD, who leads the Personalized Cancer Screening and Prevention Clinic, is the power of genetic testing: “Instead of the traditional ‘waitand-see’ approach, it allows us to create an aggressive, personalized strategy to protect an individual’s health.”
Having that leg up on cancer is why Providence St. Jude became one of the first hospitals in the nation to provide genetic screening to every woman getting a mammogram and, more recently, every individual getting a colonoscopy.
When you make an appointment at the St. Jude Breast Center or the Knott Family Endoscopy Center, you’ll receive a text or email asking you to complete a short genetic screening questionnaire. Part two of the unique program is: those at elevated risk due to inherited mutations or other factors find expertise and ongoing monitoring at the hospital’s cancer prevention clinic.
The potential 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, this gives us a way to identify those at higher risk and minimize that risk,” explains Dr. Foley.
Cindi spends most days with one or more of her grandchildren, often picking an activity out of a hat to decide the afternoon’s events, from going to a new park to shopping at Costco to seeing a movie. What she’s not doing is fighting a stage III or IV cancer diagnosis—and she’s immensely grateful.
“Grandchildren are worth getting old for,” she says. “It’s a gift made possible by a little saliva and some great medical care.”
For questions, contact one of our certified genetic counselors at 714-446-7559.
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