Paola Holbrook always knew she had a strong family history of breast cancer. The disease struck her grandmother, mother, several aunts and her sister. So, she suspected a genetic mutation for increased breast cancer risk — BRCA1 or BRCA2 — ran in her family. But, as a young mother of two, Paola wasn't sure she wanted to know if she'd inherited it.
Then, while living in the Netherlands in 2020, she watched an episode of The Bold Type that changed her mind. One of the show's characters pursued genetic testing after a breast cancer diagnosis. When Paola saw how many preventive options existed, she knew she needed to be proactive.
“When the mother on the show opted for genetic testing and decided to go through the steps for prevention, that struck a nerve with me," says the 38-year-old banking professional and part-time group fitness instructor. “I had been a patient with The Christ Hospital for 13 years. Ultimately, I decided that when we returned to the States, I would start the process to find out my risk there."
Debating genetic testing
Still, Paola's journey to uncover her risk took time. When her family returned to the Cincinnati area, she saw her oncologist and elected to undergo breast cancer screening every six months, including a breast MRI. Soon, she wanted to explore the next step and met with a genetic counselor at The Christ Hospital, Corrie Fabelo, LGC.
“Although Paola wasn't quite ready for genetic testing, she was open to the conversation," Ms. Fabelo said. “We spoke on the phone. She shared her family history, and I explained her testing and prevention options. I told her our goal was to make sure she stayed healthy and help her be as proactive as possible."
Ms. Fabelo also cautioned Paola to secure any life insurance, long-term care or disability insurance before genetic testing. She wanted Paola to have those policies in place because life insurance companies may reject coverage for individuals with genetic testing results indicating increased cancer risks. It's important to note that the Genetic Information Nondiscrimination Act (GINA) protects individuals from discrimination based on their genetic information in both health coverage and employment.
Roughly a year later — and after securing life insurance — Paola told Ms. Fabelo she wanted to tackle testing head-on.
“I talked with my husband, and he reminded me how much I like taking matters into my own hands. He made me realize that, while I couldn't control whether I got breast cancer, I could control how I responded to the likelihood of having a higher risk," Paola said. “I decided it was time to stop hesitating. I needed to address this potentially ticking time bomb while I was still young and healthy enough to recover quickly."
Once Paola decided to pursue testing, the process happened quickly. She talked with her oncologist and had her blood drawn the same day. Three weeks later, Ms. Fabelo called with the results — Paola tested positive for the BRCA1 mutation.
Over the next hour, they discussed what the mutation meant for Paola's health. Her risk for developing breast cancer at some point was more than 80 percent, and she also faced a nearly 50 percent chance of experiencing ovarian cancer. Faced with those odds, Paola decided a prophylactic double mastectomy — removing both her breasts before cancer appeared — was her best option.
“After watching that The Bold Type episode, I had decided to get a double mastectomy if my results came back positive. But I had a moment's hesitation where I wondered if doing it was too drastic," she said. “It was a very brief pause."
Taking action to reduce risk of breast cancer
Paola's surgeon, Be Saito, MD, agreed surgery was the most effective strategy. Roughly 40 percent of women with the BRCA1 mutation who don't have surgery or medication die before age 70. But, if a woman chooses a preventive mastectomy, her lifetime breast cancer risk goes down to approximately 5 percent, and her survival odds at the same age double to nearly 80 percent.
That information reinforced Paola's decision: she had surgery in April 2023. Dr. Saito said the procedure was successful but didn't go as originally planned. Paola initially considered breast reconstructive surgery to preserve the look of her breasts. Ultimately, she decided against it because it meant the slower recovery would impact her activity level.
“Reconstruction would have limited her mobility. Paola is very active, and implants would have changed her workout routine," Dr. Saito said. “She's an example of someone who spoke up and advocated for herself. She's been very pleased with how she's healed."
In fact, Paola recovered faster than anticipated. She drove her car a week after surgery and returned to the gym within two weeks. Within a month, Dr. Saito cleared Paola to return to all activities.
“Twenty-seven days after surgery, doctors removed all my restrictions. I was already doing push-ups," Paola said. “At my follow-up appointment, my doctors said it was clear I made the right decision for myself."
The impact of a team-based approach
Paola credits Ms. Fabelo and Dr. Saito's close collaboration for her positive outcome. At every step, they communicated and coordinated her care.
“As a precision health team, they're the experts," Paola said. “You're in completely unknown territory when you get information about anything related to a potential cancer diagnosis, and it's scary. I felt like I had someone guiding me and explaining everything along the way. They were incredibly supportive and empathetic. They really put me at ease during a very difficult time."
And the team-based approach frequently improves the care patients receive.
“This type of care is vital for patients whenever they pursue genetic testing and surgery," Ms. Fabelo said. “By working together, we can immediately communicate results to patients, their surgeon and their care team. It's a game changer."
Overall, Paola said she encourages anyone with a strong family history of breast cancer to consider genetic testing.
“Knowledge is power, and results can empower you to make decisions on your own terms," she says. “In life, we get to control so few things, but this is one thing you can. That doesn't mean you have to take the same measures I took. Surgery isn't right for everyone, but with testing, it's a choice you get to make."
Ready to learn more about genetic counseling and testing for breast cancer?
Join us for Breast Cancer: Beyond the Mammogram on Wednesday, Oct. 25 from noon - 1 p.m. This virtual lunch and learn will feature Jennifer Manders, MD; Julie Specht, MD; and Corrie Fabelo, genetic counselor, as they share the latest in prevention, detection and treatment of breast cancer. Topics will include genetic counseling and testing, advanced imaging, getting second opinions, advances in treatment, and moving beyond breast cancer as a survivor.
Can't attend but still interested? All registrants will receive a recording of the webinar after the event.