From Promise to Practice

A Mayo Clinic patient discovers how sequencing the human genome gives new meaning to personalized treatment

By Mayo Clinic Staff

After two months of chemotherapy at Mayo Clinic, Holly Boehle returned home to her family in Grand Rapids, Mich.

Holly Boehle noticed a lump last December that didn't go away. She briefly wondered if she should get it checked, but it was the holidays and she was busy with her kids and family in Grand Rapids, Mich.

After the holidays Holly went in for a mammogram and ultrasound. "I spent the weekend worrying about it but hoping for the best," she says. But soon she found out it was aggressive breast cancer. "There was certainly shock but also an immediate question of what is the best treatment plan."

Holly, 42, came to Mayo Clinic in Rochester, Minn., and soon learned about the Breast Cancer Genome-Guided Therapy (BEAUTY) study at Mayo's Center for Individualized Medicine. BEAUTY researchers sequenced Holly's DNA and the DNA of her tumor. Looking for new ways to fight aggressive, invasive breast cancers, researchers then took cells from her tumor and transplanted them into mice.

"I'm very interested in the mice," Holly says. "I think it's pretty amazing to have mice with my tumor tissue growing inside them. This gives researchers — and me — the opportunity to see specifically how my cancer responds to a variety of treatments. Potentially, there will be some personalized information for me from this BEAUTY study to treat a possible recurrence of my cancer."

Holly is the type of patient Mayo Clinic had in mind when it established the Center for Individualized Medicine. "I've been so impressed with the care I've had. It's very high caliber and tailored for me," she says. "I feel that personal touch in everything here at Mayo."

Holly's care combines ongoing research in the BEAUTY study with her current treatment plan.

"This was always the promise of individualized medicine," says Gianrico Farrugia, M.D., a gastroenterologist and the center's director. "Now this is the practice of individualized medicine, taking genomic information and applying it to patients who need our help."

Alexander S. Parker, Ph.D., an epidemiologist and the Cecilia and Dan Carmichael Family Associate Director for the Center for Individualized Medicine in Florida, says that Mayo Clinic is at "the forefront of a quantum shift" in medical practice.

"But we want to make sure we're only providing these new technologies to patients where we can do the most benefit."

As technology rapidly improves in the field, genomic medicine will play an even greater role in patient care. Very soon doctors will be able to sequence the genome in one to two days for about the same cost as an MRI.

"That's really significant," Dr. Farrugia says. "What that means is that cost is no longer an impediment."

Two recent events helped make genetic testing a mainstream discussion — a Supreme Court ruling limiting patents on individual genes and actress Angelina Jolie revealing she underwent a double mastectomy after she discovered a mutation in one gene (BRCA1) that greatly increased her chance of getting breast cancer.

There are 800 mutations in that gene, and while conventional chemotherapy targets about 500 of them, there are hundreds more to study.

"Our job is to use our technology so that each patient gets the best therapy possible," Dr. Farrugia says.

The U.S. Preventive Services Task Force said recently that every woman at high risk of breast cancer should be placed on the drug tamoxifen. But many women don't need the drug, and for another subset, even if they need it, it simply won't work because their genes won't metabolize the drug.

"By placing everybody on the same drug, you're exposing them to a risk of a side effect. You are creating, in some people who don't have a tumor or a risk, a false hope," Dr. Farrugia says. "More importantly, you're depriving them the opportunity to tailor care. What we're doing at Mayo is making sure we tailor the care to the risk."

And that promise is coming quickly into the practice at Mayo Clinic.

"Medicine will look incredibly different in the next few years all because of this ability that we now have to sequence our DNA," Dr. Farrugia says. "We've accomplished a lot with benefactor help, but there's a lot more that we need to do.

"We need to start doing this for more and more patients. We need to start doing this for more and more cancers and many other diseases, and we need to spread this news so that patients can be empowered with this knowledge."

Savoring the moment

Back home in Grand Rapids, Holly already feels empowered from her experience.

"For another woman down the road who may have a tumor very similar to mine, they'll know what is effective for this particular type of cancer," Holly says. "The BEAUTY study breaks down broad categories of breast cancer into very specific and individualized information that may help someone else as well."

This year, Holly's treatment included chemotherapy in Grand Rapids and surgery and radiation at Mayo, where she spent two months. As soon as the radiation treatments were finished in October, Holly returned to her life as a school psychologist, wife and mother of two children.

"I wanted to return to normalcy, which includes family routines, work and seeing friends," she says. "However, my perspective has widened to include a desire to be in the moment. Our lives move at such a fast pace. This journey through cancer taught me to be still and savor the moment.

"Above all, I have learned to trust God completely, wholly, and rely on him for strength. Separation from my family, friends and work — my life — has been very difficult during radiation treatments. But I can say with confidence that God has met my every need through my family, friends and medical staff at Mayo."