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The US Preventive Services Task Force (USPSTF) recommends primary care clinicians assess a woman’s risk for BRCA gene mutations with a brief familial risk assessment tool—much like NorthShore’s Advanced Primary Care model which includes the Genetic Wellness Assessment—to help guide physicians on referring patients for genetic counseling or testing.
This three-pronged approach (assessment, counseling and testing) provides patients with specific health care plans to predict, and hopefully prevent disease when possible.
This approach is not new to NorthShore—like in the case of patient Rebecca Marsalli.
Rebecca was a third-grader when her mother battled breast cancer for the second time. While she didn’t let the fear of the disease rule her life, as Marsalli grew up, the specter of breast cancer was always in the back of her mind.
Focus on Heritage and Heredity Marsalli’s mom raised the idea of her daughter undergoing genetic testing years ago to assess her hereditary risk. The now 29-year-old wife and mom from Zion ultimately decided to go for it last year after the birth of her first child, with encouragement from her NorthShore Gynecologist Edward Lee, MD.
“At this point in my life, I felt it was the right thing to do—especially if I could use the information to take better control of my health,” said Marsalli.
So she took advantage of the online Genetic and Wellness Assessment offered exclusively through NorthShore Advanced Primary Care, which integrates genetics as part of each patient’s care plan. Dr. Lee’s review of her assessment clearly showed Marsalli met the guidelines recommended for genetic testing.
“It’s excellent that we have patients do this initial screening rather than having a physician make an educated guess as to whether a patient should undergo testing,” explained Dr. Lee, who holds an academic appointment at the University of Chicago Pritzker School of Medicine.
The Power of Knowing Marsalli’s genetic test results provided clear confirmation she carries a mutation in the BRCA1 gene, which is linked to a higher risk of developing breast and/or ovarian cancer. Although understandably difficult to accept, Marsalli said she is grateful for the opportunity to be proactive, starting with regular and vigilant screenings for breast cancer.
“It was nerve-wracking at first to hear that I had the BRCA1 mutation, but I haven’t shown any signs of problems yet and now I have a plan in place going forward,” said Marsalli, who met with a genetic counselor at NorthShore’s Mark R. Neaman Center for Personalized Medicine to go over her results. The consultation led to a referral and appointment with Medical Oncologist Allison DePersia, MD, who specializes in caring for high-risk patients with genetic mutations.
Dr. DePersia put Marsalli on a precise monitoring schedule, alternating breast MRIs and mammograms every six months as well as twice a year breast exams. “She’s such a great doctor and really helped put my mind at ease,” said Marsalli.
“Rebecca’s baseline MRI was normal,” noted Dr. DePersia. “Now, she has this really important information that has motivated her to start screening and catch potential cancer early when it’s most treatable.”
“We talk about previvors now—those who have a predisposition to cancer but have not had the disease,” Dr. DePersia added. “NorthShore’s program is a way to get these patients genetic testing when they really need it, rather than finding out they have a mutation through a cancer diagnosis later in life.”
Redefining Medicine “We know that having a genetic mutation is not destiny. It’s not a guarantee that the patient will get cancer, but identifying the mutation early enough allows us to formulate a plan well in advance of when cancer is likely to occur,” said Peter Hulick, MD, Medical Director of the Neaman Center for Personalized Medicine.
“We’re still learning how to better predict individual risk and take the field of genetics even further,” emphasized Dr. Hulick, who also holds an academic appointment at the University of Chicago Pritzker School of Medicine. NorthShore is part of larger consortiums and multisite national research efforts to learn more about polygenetic risk scores in BRCA positive patients and other factors that affect individual risk.
NorthShore’s Genetic and Wellness Assessment and coordinated follow-up with experienced genetic counselors and clinicians bring the remarkable advances of genetics to everyday care. “We want to develop more robust care plans around genetic information for all our patients,” noted Dr. Hulick.
No Looking Back Marsalli admits that a decade ago when the idea of genetic testing was first raised she was scared of what she might find out, and just didn’t want to know. “But when Dr. Lee brought it up, there was no doubt in my mind that it was the right thing to do.”
“It’s never easy to hear this kind of test result, but I’m optimistic for Rebecca,” said Dr. Lee. “Having this knowledge helps us optimize patient care and do our job to keep her healthy and make sure she’s around for her family.”
“This has been such an empowering experience. I’m glad I did it and now have the chance to take control of my health,” said Marsalli, who with her husband Ken spends every day focused on the joy of their six-month-old son Jack.