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Diving into Your DNA: Testing Positive for BRCA1
Friday, November 15, 2019 8:50 AM
Tags: cancer,ovarian cancer,advanced primary care
For nearly 20 years, Julie Galassini wondered why she had been spared from a genetic mutation that ran deep within her immediate family. Genetic testing done in the late 1990s—after her mother was diagnosed with breast cancer—found that both of her sisters and her mom tested positive for the BRCA1 mutation, associated with a higher risk for developing breast and ovarian cancer. Galassini, however, was informed she was negative.
Sadly, her family's higher risk took a devastating toll. Galassini's mother died in 2015 from a breast cancer recurrence, and her older sister died of ovarian cancer in 2013. Her younger sister elected to have risk-reducing surgery at age 40, which saved her life, as doctors found precancerous cells in her fallopian tubes.
"Even though they told me I was negative, I never felt totally comfortable," recalled Galassini. "The risk was always in the back of my mind."
Conflicting Results
Fast-forward to Christmas 2017, when Galassini, 56, received a mail-in genetic test kit as a gift from her husband. She checked the box to test for BRCA1 before mailing back the kit for processing, and she was absolutely panicstricken when the result came back positive.
Understandably concerned with differing results, Galassini's first call was to NorthShore's Gustavo Rodriguez, MD, the Matthews Family Chair of Gynecologic Oncology Research, who had treated her older sister. Dr. Rodriguez ordered a new, more advanced medical-grade screening at NorthShore's Neaman Center for Personalized Medicine, which confirmed that she was indeed BRCA1 positive.
When Galassini had her original genetic test done, the off-site lab mistakenly tested for the wrong genetic mutation. The advanced testing done today is far more sophisticated and reliable than when Galassini had her first test two decades earlier.
From Positive to Proactive
With a positive BRCA1 confirmation, the Lake Forest wife and mother of five decided to move full speed ahead with preemptive surgery to mitigate her risk, first scheduling a hysterectomy with Dr. Rodriguez. "He was great with my sister, and I love him. He's amazing," noted Galassini, a real estate attorney who recently became a grandmother. "I was very lucky. Dr. Rodriguez didn't find any abnormal cells, and everything looked great."
My experience at NorthShore was outstanding. - Personalized medicine patient Julie Galassini
"For women with the BRCA1 mutation, national guidelines recommend they consider risk-reducing surgery by age 35 to 40 after completing their families," explained Dr. Rodriguez, who acknowledged the very personal nature of the decision for each patient. He also pointed to the fact that some women, like Galassini, may not be aware of their genetic risk until later in life.
Critical Guidance
The Neaman Center for Personalized Medicine not only offers the latest, most comprehensive genetic screening panels but also provides vital counseling services for patients of all ages on how to better prevent and treat a wide range of inherited conditions. Senior Genetic Counselor Anna Newlin said the usual recommendation for BRCA1 positive patients is the preventive removal of ovaries and fallopian tubes, while some patients also elect to remove their uterus in a full hysterectomy.
"When I met with Julie, it was an emotional visit. We usually counsel patients to meet with physicians to discuss the pros and cons of screening and surgeries to reduce risk," explained Newlin. "But we also personalize it for each patient looking closely at lifestyle factors, too, including activity levels and diet that can impact cancer risk."
While Galassini was already well versed in the risks associated with BRCA1 given her family history, she appreciated Newlin's support before undergoing a minimally invasive full hysterectomy at NorthShore. Galassini's situation is very rare, Newlin added. "With many patients now using direct-to-consumer genetic tests, it's important to follow up on the results with a trained medical expert for definitive clinical testing and follow-up support."
Prophylactic Surgical Expertise
Five months after undergoing the hysterectomy, Galassini had a bilateral mastectomy with NorthShore's Chief of Surgical Oncology Katharine Yao, MD, followed by reconstructive surgery with NorthShore-affiliated Plastic Surgeon Geoffrey Fenner, MD.
"We're fortunate at NorthShore to have an excellent medical genetics team at the Neaman Center," emphasized Dr. Yao, who along with Dr. Rodriguez holds an academic appointment at the University of Chicago Pritzker School of Medicine. "Our genetic counselors are extremely knowledgeable and accessible. And since we see a lot of high-risk breast cancer patients, it's a great resource."
Dr. Yao also echoed the importance of patients having test results reconfirmed in a clinical setting rather than relying solely on home test kit results to make important decisions about preemptive surgeries to lower their risk. "The increased awareness of genetic risk factors is definitely positive, but there are certainly cautionary tales with some inaccurate findings in consumer genetic tests," she added.
Another major concern for Galassini has been the risk BRCA1 poses for her three grown daughters, all of whom were tested for the genetic mutation. "Anna was so wonderful with my girls," relayed Galassini. One of her daughters did test positive for BRCA1 and is now working with Galassini's care team to reduce her own risk.
"At least this is a gene that you can react to and save your own life," Galassini added. "We're lucky in that respect."
More than just a grateful patient, Galassini and her family also have become generous donors to NorthShore Foundation. Their gifts provide financial support to advance the work of the Neaman Center, which develops new prevention and treatment options through research.
"My experience at NorthShore was outstanding—and looking back, this whole situation was kind of like a weird miracle."
Gustavo C. Rodriguez, M.D.
Evanston, Highland Park
Katharine A. Yao, M.D.
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