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At the Health IT Summit in Boston, a Fresh Look at the Emergence of Personalized Medicine

June 23, 2017
by Mark Hagland
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At the Boston Health IT Summit, important insights on the evolution of personalized medicine

How might the shift towards personalized medicine and towards precision medicine—two related but different concepts—impact cancer care within the United States healthcare system? That question was explored in some depth during a presentation entitled, “Using Precision Medicine and Personalized Medicine to Build a Patient-Centered Strategy,” the first presentation given on June 15, during the Health IT Summit in Boston, held at Boston’s Revere Hotel, and sponsored by Healthcare Informatics. The presentation was given by Kristin Darby, CIO at the Boca Raton, Fla.-based Cancer Treatment Centers of America, and John Halamka, M.D., CIO at Beth Israel Deaconess Medical Center in Boston.

After explaining in some detail the broad treatment philosophy and strategy at Cancer Treatment Centers of America, Darby noted that “There are a lot of paradigm shifts going on as we start to change our industry, and some of the themes involved in oncology are similar to those emerging across U.S. healthcare as a whole.” Among them, she said, are the move “from reactive to predictive care, from sick care to wellness, and moving towards care that’s specific to a patient. And when you look at precision medicine, there are specifics that can be determined about the classification of disease at the molecular level, rather than organ or body location.”

What about the two terms? “Personalized medicine and precision medicine are terms that are often used interchangeably,” Darby said. “But there is a difference,” she pointed out. “Precision medicine focuses on the specific needs of a patient and their known response to specific biomarkers. Patients typically go through genomic testing, and the results are tested based on known biomarkers, and their treatment is then adjusted. Meanwhile, personalized medicine can include precision medicine as one of its components, but also includes such things as lifestyle, patient preferences, and the patient’s lifestyle.”

Darby went on to say that, “As you start to look at the value of precision medicine—historically, prior to this, the approach has been population-based, with the same approach for everyone, and only a certain percentage of those approaches working. And when it comes to oncology, those approaches kill healthy genes as well as diseased genes. But with personalized medicine, you take into account elements important to the patient. And it also includes looking at lifestyle and other factors that can really help the patient individually.” She said that a famous quote from science fiction writer Isaac Asimov applies here: “One of the saddest things in life, he said, is that science gains knowledge much faster than society gains wisdom,” she said. And you can see that with precision medicine: advances are happening at such a rapid rate that individuals cannot absorb the new knowledge.”


Kristin Darby and John Halamka, M.D. on June 15

Darby continued, “That’s where technology comes in, to help individual patients. And typically, most healthcare providers are doing partial genome sequencing, which might include a 300-gene panel, followed by targeted therapies for specific abnormalities. What you’ll see” sometime in the near future, she said, “is an evolution of maturity where, when the test is done, the goal is to move that to time of diagnosis. And we believe at Cancer Treatment Centers of America that we’ll continue to move closer to diagnosis in order to avert going through failed rounds of care. Often,” she said, ‘patients don’t pursue genomic testing until after two or three rounds of treatment have already failed; meanwhile, overall health tends to decline with each round of chemotherapy.” In contrast, she said, in the future, a personalized approach to treatment will be available. “And it will mature from partial genome sequencing to full genome sequencing, which will look at healthy DNA. And instead of just looking at DNA, from a targeted therapy perspective, the abnormality causing the disease may only affect the patient as it’s expressed. And with proteomics, physicians will be able to offer more specific, targeted treatment.”

Darby went on to share with the audience a case study that had been approved for public sharing, by the patient involved. The patient is Christine Bray, who was diagnosed at the age of 30 with metastatic ovarian cancer in 2010, when her youngest daughter was just three months old. Bray was given five months to live. Her goal was to survive at least a few years, so that her youngest daughter would have a memory of her. “She went through a horrendous experience, with numerous treatments and surgeries,” Darby said of Bray. “Then she came to CTCA in Philadelphia, and received advanced genomic testing, which identified a therapy that would target the tumor’s genetic mutation (everolimus). It was when she got her third diagnosis of recurrence that she came to CTCA. And it was identified that she would benefit from genetic testing, and received targeted therapy. Within three months, she was cancer-free and has lived a normal life for five years now, with no evidence of disease. That shows the promise of precision medicine.”

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