UF Health MedMatters

Genetic Testing for Hereditary Breast, Ovarian Cancer Risks May Have Future in Routine Care at UF Health

A University of Florida Health practice is one of only a few in the country offering genetic screening for cancer risks to patients as part of their routine exams.

The genetic screenings are being offered to gynecology patients of Shireen Madani Sims, MD, an associate professor in the UF College of Medicine’s department of obstetrics and gynecology. She and Sonja A. Rasmussen, MD, MS, a professor of pediatrics, obstetrics and gynecology, and epidemiology at UF, are leading the way to identify patients who may have a heightened risk of breast and ovarian cancers.

Genetic screenings are a way to identify patients who may have a heightened risk of breast and ovarian cancer

“I feel like this is truly an opportunity to save lives,” Madani Sims said.

The screening evaluates 20 genes related to breast and ovarian cancers, including a test for some of the more common breast cancer, or BRCA, gene mutations. When a change in one of the 20 genes is detected, guidelines can lead to increased screening such as mammograms at an earlier age and possible preventive surgery or medication.

For those with genetic risk factors, cancer is more likely to appear at a younger age. The value of genetic testing is also supported by research. Findings by other researchers published last year in the journal JAMA Oncology showed women who know about their BRCA status prior to their diagnosis of breast cancer often get breast cancer diagnoses at earlier stages, have a lower rate of chemotherapy and radiation and live longer compared with those who do not know their BRCA status. Those are all good reasons for women to get screened, Madani Sims said.

Screened patients who have genetic changes detected are referred to a UF Health genetic counselor to discuss other family members who may be at risk. They are also referred to other specialists to discuss options that may include lifestyle changes, increased surveillance, medications or risk-reducing surgeries such as mastectomies or oophorectomies.

The women’s health screenings are part of an effort to help UF Health patients benefit from scientific research and advances in genetic screening technology, Madani Sims said. She is the first physician at UF Health to incorporate genetic testing into routine wellness exams through a collaboration with medical genetics company Invitae.

Rasmussen said she hopes screening for hereditary breast and ovarian cancer will be expanded into other gynecology physician practices at UF Health. She also sees the potential to expand genetic screening into other practice areas such as family medicine or internal medicine.

“There are many women without a recognized risk factor who still develop breast and ovarian cancers. In terms of absolute numbers, that’s where a lot of the cases arise. A step-wise screening process, like the one we are using, has the potential to find those women at higher risk for these cancers who would otherwise be considered only average or low risk.” - John Smulian, MD, MPH.

For patients, the process is as simple as the results are useful: They get an email before their annual exam requesting that they participate in genetic screening as part of their routine care. When they respond, they receive an individualized link to an online survey that collects their personal and family medical histories as well as other risk factors. That provides a standardized way to gather information on the patient’s personal and family medical history while assessing risk. It also allows patients to clarify uncertain history with other family members before their visit. Based on a patient’s answers to questions about personal and family medical history, the screening tool may identify them as a candidate for genetic testing. In that case, a saliva sample is taken to test for a 20-gene panel.

So far, Madani Sims’ office has screened 232 patients and identified 86 who qualified for genetic testing. Out of these, 19 pathogenic variants have been identified, with these patients being referred to other specialists to discuss risk-reducing strategies and to assist with testing other family members.

The screening tool is free. If genetic testing is required, most insurance plans cover the cost of genetic testing for patients identified as high risk. For those without insurance, the test costs $250. Financial assistance may be available for patients whose out-of-pocket cost is more than $100.

John Smulian, MD, MPH, a professor and chair of the UF College of Medicine’s department of obstetrics and gynecology, sees much promise in the continually evolving field of genetic testing. Improved genetic screening technology can result in better, timelier diagnoses and treatments, he said. One day, he hopes to see genetic screening expanded beyond patients with known risk factors.

“There are many women without a recognized risk factor who still develop breast and ovarian cancers,” he said. “In terms of absolute numbers, that’s where a lot of the cases arise. A step-wise screening process, like the one we are using, has the potential to find those women at higher risk for these cancers who would otherwise be considered only average or low risk.”

About UF Health Shands Hospital

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University of Florida Health Shands Hospital has been recognized among the nation’s best hospitals in seven adult medical specialties. Overall, UF Health Shands Hospital was recognized as one of the best hospitals in Florida. In addition to being ranked among the nation’s top 50 hospitals in seven specialties, UF Health Shands Hospital also was listed as “high performing” in seven specialties, including abdominal aortic aneurysm repair, colon cancer surgery, COPD, heart failure, lung cancer surgery, neurology & neurosurgery and orthopaedics.