We hear it all the time: “What does personalized healthcare mean for patients?”
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It’s a fair question, and a hard one to answer sometimes because our field is so new. But patient Dana Kachurchak of Chagrin Falls, Ohio, is living proof that this isn’t just about the future. Personalized healthcare is happening now.
After Ms. Kachurchak’s mother’s death from ovarian cancer three years ago, her doctor recommended specific tests to determine her risk for developing the same or similar cancers. An ultrasound raised flags; there was a shadow on her ovaries. Her doctor recommended prophylactic (preventive) oophorectomy, the surgical removal of her ovaries to prevent cancer from forming.
A day before the surgery, Ms. Kachurchak also learned that other genetic testing showed she was BRCA positive. She did not know what that meant yet.
BRCA and breast cancer
Ms. Kachurchak’s doctor explained how the BRCA test works and that the results are directly related to her genetic makeup.
BRCA is what we call a “caretaker” gene because, when it’s working properly, it helps repair your DNA. But when people have mutated BRCA, their risk of breast cancer rises. In Ms. Kachurchak’s case, if she did nothing, she had an 87 percent chance of developing breast cancer by age 70.
She thought she had avoided the biggest risk by having her ovaries removed, but now she faced another huge life decision.
Knowing what she faced, but refusing to face it in a vacuum, she reached out to Cleveland Clinic’s Holly Pederson, MD, a medical breast specialist who is well-equipped to help people with inherited cancer risks. Dr. Pederson worked with her to create a family history. They used this as a guide, along with the results of the BRCA test. Dr. Pederson explained that Ms. Kachurchak had two options. She could practice rigorous monitoring for breast cancer, or she could have a prophylactic double mastectomy, the removal of both of her breasts.
Equipped with very specific information about her genetic makeup and very clear advice on her options, Dana took a year to decide that surgery was the best option for her.
Being a “previvor”
Ms. Kachurchak sees herself as a “previvor,” a survivor of a predisposition to cancer; she did not get the disease because she took preventive measures. She points out that by using her family history along with the proper genetic testing, she avoided a potentially fatal scenario.
The promise of personalized healthcare is to use the same methods Dr. Pederson used with Dana, but to introduce them earlier on — perhaps during the first visit. When risk-assessment tools become easy and available to every doctor in their standard practice of care, we can say we’ve made a stride in moving toward true personalized care.