When Gianrico Farrugia, medical director of the Mayo Clinic Center for Individualized Medicine, thinks of where personalized, or individualized medicine, is today, he harkens to the early days of Bluetooth back in the 1990s, when the wireless technology was just about to take off.
"It was at the point of being past the first phase, like high-risk ventures that were more likely to fail. That's where we are with individualized medicine. We are past that point, and into the implementation phase," Farrugia told me. "We find ourselves designing the future of medicine through personalized medicine."
The focus of personalized medicine is to tailor a patient's medical care based on his or her individual genetic makeup. The evolving technology that has thrust genetic sequencing into the forefront of patient care has moved quickly, and there doesn't seem to be an "insurmountable barrier" to beginning its implementation in a few years, according to Farrugia.
The Mayo Clinic is a major player in that unfolding scenario. Last month, it opened its Individualized Medicine Clinic at three of its locations: in Minnesota, Florida, and Arizona. There, clinical trials are beginning to focus on diseases that have eluded traditional diagnosis, or in treating intractable cancers.
Patients enrolled at Mayo Clinic Florida are diagnostic odyssey cases, people whose symptoms are suspected of having an underlying genetic condition or heritable cause. At Mayo Clinic Arizona, researchers have been using whole genome sequencing to look for novel treatments for incurable cancers.
Patients who have exhausted traditional treatments will have their tumor genomes sequenced to identify pathways that would make them suitable candidates for therapeutic drugs.
"We are absolutely at a critical juncture in medicine. Medicine will be fundamentally different than [it is] today," Farrugia says. "We don't fall into the pitfalls that other exciting technologies have run into. We can do that by being very systematic, and project-approach oriented."
While Mayo is among a handful of systems developing specialized institutions to roll out personalized medicine, others are combing research and clinical work for personalized medicine, with some dubbing it "individualized" medicine, or "precision" medicine.
Still other hospitals aren't going that far. Even though they may publicize that they offer "personalized" medicine, what they are doing is a far cry from what Mayo has launched.
The term "personalized medicine" itself has become the subject of internal disputes over what it means, and over the veracity of some institutions' claims about offering it.
"It's a real form of contention," Farrugia says. "If you talk to caring physicians, [they'll say] that's why they went into medicine in the first place, personalized medicine. You sit down with a physician who asks, ‘ Are you sensitive to medication?' That's personalized. It's not the greatest of terms."
Mayo officials didn't get caught up in quibbling over the term. The imperative was to establish the center now, to move ahead in personalized medicine—or whatever it will come to be known as in the future. "It really came to one thing … how do we take it into practice?" Farrugia explained.
"If you are a cardiologist in the institution, how do you see [personalized] medicine working? The Mayo leadership truly believes that if we are going to make an impact on our patients, we need a place to drive it into routine clinical practice."
A significant Mayo Clinic undertaking in personalized medicine includes its Breast Cancer Genome-Guided Therapy Study, in which 200 patients have been identified and will participate in a clinical trial involving whole genome sequencing.
Women diagnosed with "high-risk" cancers scheduled to receive standard chemotherapy surgery will have their healthy genome and their breast cancer tumor cells sequenced before treatment, and then will receive chemotherapy to shrink the tumor.
To those patients with high-risk recurrence of cancer, personalized medicine may represent a breakthrough. "Say you went through standard therapy and relapsed, and then into a second drug and were resistant. Now that tumor has spread and you are looking for something. By doing genome sequencing earlier, you can find that first line therapy and second line therapy sooner," Farrugia says.
Although he is an enthusiast and believer in the prospect of individualized medicine, Farrugia has the heart of a scientist, a questioning heart. While patients will be seen in clinical trials and their genetic makeups will be used to determine treatments, the Mayo Clinic isn't ready yet to open its doors to all patients seeking such treatment.
"If you are a person worried about [your] health and want to know what the future holds, and you want to find out your risk for high blood pressure, we think the strength of the data isn't there yet," Farrugia says.
Referring to Mayo's individualized medicine about breast cancer, known as the Beauty Project, Farrugia says he has high hopes, but is also realistic. "That is a research protocol. We have phase one and phase two and we are all excited, but we are also scientists," Farrugia says. "You do research … and you may not be right, but you've got to do it."
Aside from outcomes, the journey toward personalized medicine includes ethical complications.
Because of these concerns, Mayo has initiated a bioethical program "whose only job is to think about the ethical implications of what we are doing," Farrugia says. Within the bioethical program is a community advisory board, as well as a separate individualized medicine working group.
"We are bringing everybody together under an individualized medicine working group," he says. That would include medical genetics professionals, counselors, oncologists, ethics specialists, sequencing specialists and pathologists. The group meets once a week "and systematically goes through all the issues," Farrugia says.
Among those issues: the impacts of the data: "Do you want to tell someone about the risk of a gene that may impact a relative? We're going to be upfront and deal with it."
So Farrugia tells me, Mayo is weighing its options. "We not only see the market's promise, but we also see the realities."
"We're trying to have a holistic approach to individualized medicine," he says. "It's very much what physicians had to deal with 30 years ago, asking the same personal questions, but they didn't have the data to back it up. More information from the whole genome sequencing can back up the intuition that the physician originally had."
Joe Cantlupe is a senior editor with HealthLeaders Media Online.
