At the Health IT Summit in Boston, a Fresh Look at the Emergence 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.”
Dr. Halamka also had a case study to share—in this case, that involving his wife. “My entire family has agreed to publicly share all of our health and medical information,” in order to inform and enlighten, he told the audience. “My wife six months ago said, ‘I’ve had a 20-pound unexpected weight loss. My hair is thinning and getting brittle, and my heart is racing.’ And those are the classic signs of thyroid disease. So what did she do? Did she drive down the Mass Pike to downtown Boston and pay $40 for parking, to be seen for five minutes?” he continued. “No, she didn’t; she picked up our mobile app, which all our patients can get, And with SMS messaging, you can send a message. So she sends a message to her primary care doc, saying, ‘I have the following symptoms, it’s probably a thyroid-related condition.’ Her doc says, ‘Yes, I agree, let’s order a T3 T4 TSH, at the laboratory five minutes away from your home.’ She drives to the nearby Qwest, gets the lab drawn within an hour, and they actually send the labs to the patients. She finds out her TSH is 0, and her T3 and T4 are five times normal; she has thyroid disease. So she texts her physician asking for a referral. She gets her appointment the next day with a specialist, who doses thyroid-stimulating immunoglobulin, discovers she has Grave’s disease, and has a discussion of preferences.”
Continuing the case study about his wife, Halamka said that her physician gave her three options for treatment: “You can have your thyroid removed; have it ablated with radiation, which will create hyperthyroid disease; or medication. There are some unpleasant side effects for a year. So she agrees to that. The medication is prescribed, and within two weeks, her symptoms lessen, and she’ll probably be on it for a year. So here we take into account molecular issues, patient preference issues. And we didn’t do it in the standard way with the standard EHR [electronic health record], which is encounter-based” and rigid. “We did this in more of a social media encounter-based way. Now consider all the data and telemetry in your home. As we move towards value-based purchasing,” he said, “we need to think about how to keep you healthy in your home, versus just getting you healthy when you’re sick.”
Halamka went on to share a story about his own health with the audience. “Imagine my shock six months ago,” he said, “when I used a speculative device from MIT that suggested my blood pressure was 170/100. For a vegan like me with a BMI [body mass index] of 20, who eats rocks and sticks, that couldn’t be. But it turned out to be true. So I consulted with another physician. And I don’t have a medical cause for hypertension. So he said, ‘Let’s measure your blood pressure before and after driving the Mass Turnpike.’ Imagine how hard it is in standard medical care to measure your blood pressure 20 times a day. You go into the office, and there’s white coat syndrome, it doesn’t work. So you need the Internet of Things to do this better. So I went onto Amazon, found a blood pressure cuff, etc., and BIDM has created an app that can send your blood pressure and weight to your EHR. That app actually told my doc that I don’t have a lifestyle-based issue. My father and mother had hypertension. And I have something in my genome that predisposes me to hypertension. There isn’t a marker for that yet; they’ll discover it someday.”
What’s more, Halamka told the audience, “I have another medical problem. On occasion, my heart rate goes from 45 to 170. It happens two or three times a year. No doctor has ever figured out why. So if it happens two or three times a year, no halter monitor can track that. And so I went to Amazon and found an app, which helped me figure out that I have atrial tachycardia. And the solution is beta blockers. But you don’t really feel so great on beta blockers. So my doc said, ‘We’ll start you on 50 mg of iltoprylol a day.’ I started on 50, and it had all kinds of bad side effects. So I interacted with my physician and said, ‘This is not the right dose. So we go back and forth on social media, and we end up ultimately with 10 mg a day, what we sometimes call a ‘homeopathic dose.’ But it’s working just right. And that’s how we have to look at precision medicine, in terms of the Internet of things.”
Halamka went on to discuss the complexity of managing individual responses to medications and other treatments. “We can’t do a clinical trial on everything, Don Berwick of IHI”—Donald M. Berwick, M.D., CEO of the Institute for Healthcare Improvement—“says, sometimes, we just have to make good judgments,” Halamka said. “My wife is Korean, and we did her sequencing. The ultimate irony is that she’s BRACA-1 negative, and I’m BRACA-1 positive. So obviously, I didn’t give it to her.” Meanwhile, he said, “Our daughter is BRACA-1 negative, which is great. And we looked at the Harvard corpus of data, and we found that Asian women are very sensitive to taxol—neuropathy is a huge issue. So looking at the history of Asian women, we divided my wife’s dose in half. We didn’t have empirical evidence, but we looked at anecdotal evidence. And five years after diagnosis with breast cancer, the end result, after a half-dose dosage of taxol, is that she’s been cancer free with no recurrence. So we’ll move forward with precision medicine using the Internet of Things and interactions between physicians and patients,” he said, summarizing how clinicians and patient care organizations will evolve forward to use pieces of information and knowledge and various technologies, to ultimately create personalized medicine delivery for patients.
“So what are the kinds of things we’re doing at BIDMC?” Halamka asked. “We’ve built two Alexa interfaces for our patients,” he noted. “Right now, Alexa is not covered by business associate agreements. But Alexa doesn’t identify users. So it’s probably OK to do that sort of thing –to use Alexa as middleware, connecting the microsurfaces that are secure. And in your home, you can do things like say, ‘Alexa, ask BIDMC to schedule an appointment for me with an oncologist.’ It’s tricky with scheduling complexity, etc. But we hope that we can move beyond the standard keyboard-and-mouse way of communicating and making things happen.”
And, in response to a question from the audience on how the younger generation of physicians just going through medical school now will view and approach the concept of precision medicine, Halamka said clearly, “The folks graduating from medical school today are going to demand these technologies.”
Indeed, added Darby, “One medical school in Texas has focused on reinventing medical school education. It’s pretty incredible. Not only have they changed the approach of practical procedures, but after the lectures are over, the students turn around and they have computers, and they immediately do applied education. The benefits are enormous.” Both Darby and Halamka see tremendous potential going forward in the various forms of precision and personalized medicine. They agree, though, that the path forward will be a complicated one, with many possible turns and unexpected developments. Certainly, it will be a fascinating journey for healthcare and for patients.
