COMMENTARY

Precision Medicine: More Understanding, Better Treatments

; Cheryl Pegus, MD, MPH; Maurie Markman, MD, MS; Gregory R. Weidner, MD; Michael W. Smith, MD, MBA, CPT

Disclosures

November 24, 2015

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Editor’s Note: This fall, Medscape held its inaugural Medicine 3.0 conference in New York City. The event featured panel discussions on precision medicine and patient engagement. The following discussion focuses on how precision medicine can be used by physicians and patients in everyday life to treat conditions like heart disease and diabetes, and for weight loss and physical fitness.

The panelists detail how to use technology to complement physician-patient interactions, and how devices, trackers, and cell phone apps can be used to help physicians better understand and treat their patients. This transcript has been edited for clarity.

An Introduction to Imprecise Medicine

Eric J. Topol, MD: It's really wonderful to be here and to get this Medicine 3.0 session started. We're really thrilled to have the chance for Medscape to bring us together and talk about precision medicine and in particular how this is affecting and will affect the future of care.

But just to set the tone, right now we have "imprecision medicine," and most of us would agree that we have problems with that. As cardiologists, Cheryl and I can identify with this; just recently earlier this month at the European Society of Cardiology it was reported that in testing over 1000 cardiologists on the basics of heart murmurs and sounds, more than half were incorrect. That's not very precise.

We also have the problem with our screenings; mammography and prostate-specific antigen tests give at least 60% false positives. That's not very precise. We have 12 million serious diagnostic errors a year, which was recently reported from the National Academy of Medicine, a number that this has not changed since the Institute of Medicine first began the report, To Err Is Human, in 1999. This is 16 years later, and we have no improvement in serious diagnostic medical errors.

The other thing, of course, that typifies this problem is our medication; with the leading 20 drugs that are prescribed in the United States, 80% of patients are not responders. And when we give patients treatment, we don't actually consider the fact that the vast majority are not responding to the drugs that we're giving. All of these things set the landscape for what I think will be a very interesting discussion.

We have a real innovative cast of characters: Dr Cheryl Pegus is currently heading up the Innovation Center at New York University; Maurie Markman is president of medicine and science at Cancer Treatment Centers of America; Greg Weidner is medical director for Primary Care Innovation and Proactive Health at the Carolina Health System, which is one of the leading progressive health systems in the United States; and my colleague, who is medical director and chief medical editor at WebMD, Dr Michael Smith, who is also an internist and up on everything.

We'll start with you, Cheryl?

Precision Medicine: Not Just Genomics

Cheryl Pegus, MD, MPH: When we start out thinking of how we care for someone who first comes into contact with the healthcare system, there are two pieces related to that. One is how accurate we are in making a diagnosis at that time because that influences patient engagement. We know that about 30% of patients who see physicians leave not knowing what the diagnosis is and not understanding what's occurring; and, more importantly, after that 15- to 30-minute patient visit, they leave the office and go another 4-6 months before they see a physician again without having any information about how to guide their health.

The second is that precision medicine allows us to not only aid in making a better diagnosis at that initial point of contact but also to say to a patient: With these sensors that you have, maybe it's for monitoring diabetes, I can do geotracking of the places that you've shared with your community about where you eat. And I can assist you by sending you recommendations. Also, if I look over a week of what your glucose readings have been, it will help modify your medications. These are things we're not doing today; precision medicine gets us a lot closer to that, and the opportunity is right there and ready for us.

Dr Topol: I'm glad you started with that because a lot of people think precision medicine is just a pure genomics play. And the fact that you're getting into managing diabetes in a better way is not related to genomics, and I think that's a really good footing. Maurie, you're in the oncology world. Cancer's a genomic disease, so where do you see this whole thing?

Maurie Markman, MD, MS: Basically I would say, to me, the concept of precision medicine is really what the words say—become more precise. This is a process; this is not an event. Recently a paper appeared in the Lancet Oncology[1] claiming that precision medicine isn't working. I cannot more strongly say these people: You just don't get it. They don't understand the process. They don't understand what we're doing because they still live in a world of randomized controlled trials where you are looking at populations of patients rather than individuals.

The goal is to learn more. What makes that cancer grow? What makes it spread? What makes it occur in the first place? And it's going to be a continual process. We'll hit a few home runs, as is the case with chronic myelocytic leukemia and gastrointestinal stromal tumors, where we have actually found the true drivers in these tumors, and a drug has now become standard of care, which has an enormous impact on that malignancy.

There are other malignancies where this is going to be far more complicated. I know that we today are focused on the DNA—we're at the beginning, we're in kindergarten—and then it'll be the RNA, it'll be the proteins, it'll be networks. We'll learn more about what drives tumors, we'll learn more about how they become resistant with time, and we'll learn how to be more precise in our treatment.

Dr Topol: Greg, I think one of the things that we're seeing is "datafication" of medicine. We didn't have a lot of these data before, and obviously big buzz words like big data—I know these are the kind of things you're working with in your transformation center; can you tell us about that and your views of this subject?

Gregory R. Weidner, MD: [Dr Markman] made the point that there have been some home runs, and I think the early promise and some of the big wins in precision medicine will come in cancer care and oncology for some very obvious reasons. But I think for every home run, there's going to be a lot of singles. And the singles are taking care of the everyday challenges that patients with chronic conditions, patients with lifestyle-sensitive conditions, struggle with on a daily basis. It's a real challenge when you start to really look through the eyes of a patient who's struggling to manage one or more chronic conditions, and we know that these conditions have a significant financial impact on our healthcare system, and they have a significant impact on outcomes in the day-to-day life for these folks.

So if we can string together some singles using everything from genomics to personally gathered lifestyle data, even simple stuff like survey and text-related data, to help make the burden of treatment and the burden of living with chronic conditions more manageable for patients, then I think we can deliver on the promise of care that's more cost-effective, a better patient experience, and better outcomes.

And I think, then, if you tack on to the other part of your question, which is how does that now fold into the big data question? I think that happens once you start to crowdsource and get intelligence around the collection of patient-generated data; again, using genomics, trackers, sensors, wearables, ingestibles, etc., to drive an understanding of how we can better care for people and achieve better outcomes. Then that really becomes a powerful engine, and it's almost a real-time research engine as people are living their life figuring things out, and we're learning from that.

It's a bridge, and I don't think we'll go directly from a patient caring for themselves or caring for themselves with a provider team directly to machine-learning analytic closed-loop management. I think there's a bridge that involves human relationships and helping people to make sense of the data. But I think that once we get those big data sets both from genomics and other sources of patient-generated data, the potential to really change lives and change the paradigm of care is really powerful.

Dr Topol: Michael, I wonder if you could actually also round this out, getting into the fact that, as Greg has alluded to, we are approaching this transition. A lot of people are worried that with more data and more technology, there's a depersonalization of medicine, but of course there is a potential to actually enhance this human factor. And I want to get your views about the practical aspects and whatever else you want to share.

Michael W. Smith, MD, MBA, CPT: What really excited me about the concept of precision medicine is certainly the genomics—which is incredibly cool and lifesaving, and we're going to hear some amazing things about that. But, for me, as the patient representative on the panel and also as a certified personal trainer, the thing that truly excites me is about the lifestyle learnings that we can gain from precision medicine and from the use of activity trackers. Today, we don't know what to do with those data. People collect it, and then their activity device ends up in their drawer; they don't really know what to do with it, and they don't really share it with their physician because their physician is not going to know what to do about it. But we know that over 50% of our health, most of our health, is dictated by our lifestyle, not our genes, not our environment. So the fact that we can potentially learn specifics about how our lifestyle translates into having a condition or not having a condition, and living longer and living optimally, to me, if we can figure that out, the impact that we can have on people's health—both individually and as a population as a whole—that's huge from our perspective.

A Biomarker for Compliance

Dr Topol: Now we're going to open it up to questions.

Question: We've been talking about how exercise and activity are important parts of this equation. Are there any biomarkers that can determine whether a patient is compliant with an exercise program we prescribe or to determine if the patient is ready to mobilize in the ICU?

Dr Topol: As we've got an MD who is also a personal trainer on the panel—Michael, do you want to start with that?

Dr Smith: Wouldn't that be nice, if only we had biomarkers to tell us if someone was actually compliant with lifestyle? And I think honestly that's one of the huge areas that we need development in because we have activity trackers; we have ways to know if people are doing the basics. And honestly if we knew how to use the basics, the impact that would have on health is enormous. But then how do you take that to the next level? A biomarker would be fabulous, but to my knowledge there's no such thing.

Certainly from the work with the precision medicine initiative and the million-plus cohort of people [to be studied in the initiative], that's one of the ideas that we hoped would come out of that. And it's not just genomics, it's lifestyle, it's exercise, it's nutrition. We know that what affects someone nutritionally may be different from the next person. All of this kind of information and data are what we're hoping to get out of it, but keep in mind that it's going to take 3-4 years to even build this cohort of people, and then we don't know how long it is going to be after that to actually get that level of information. I'm hopeful we'll get there, but we're talking a little bit farther down the road, unfortunately.

Dr Topol: I'll just add that even though we may not have elegant ways, we're seeing some pretty impressive things. For example, beyond activity tracking, which is getting more and more accurate and wasn't so much so in the beginning but it is getting refined, just last week in the journal Cell Metabolism[2] there was an interesting paper on a randomized trial using a smartphone app to teach people about how they eat during the day. Most people don't just eat three meals; they eat all day long, especially in the evening, and [the authors] used that in a randomized way to show that the people, by tracking what they ate, not only lost weight but also had better sleep and better everything.

We're seeing apps that are being developed that would actually be what you are getting at and more. It's a behavioral change, which is the biggest challenge of all. So it's not just tracking—you like to gamify it to make it fun, you'd like to make it competitive with peer groups or families or neighborhoods or Facebook friends. It can be whatever you want, and you incentivize it so there really is a big-time benefit for those who are staying with a program designed for them.

Last question?

Too Much Technology

Question: I'm just trying to digest the information and trying to relate my own experience, and it seems to me as a doctor that what is really valuable to offer a patient is being fully there—mind, body, and spirit—and to connect to the patient, mind, body, and spirit, in a holistic way. Ultimately the therapeutic value lies in the interaction, and I feel like sometimes we become so cognitively driven, so busy looking at what we're putting into our computer or what we ate that we're not even looking at the food. I'm not saying I'm antitechnology; I'm just wondering if we are losing something, if we're becoming too brain driven?

Dr Topol: I do want to bring this into play for the group to wrap up. You, as a health expert, as a psychiatrist, know that depression is the leading cause of disability in our society. We've never had the ability to digitize depression and understand it at a quantified level. We also have seen many studies recently that have shown that people are more comfortable disclosing their inner secrets to an avatar than they are to a human being, which is really quite interesting. And so we have this, and we have a gross mismatch of professionals like yourself with the mental health burden of mental illness. We have a very serious situation, and we have this precision medicine initiative that is supposed to improve care across the board, so I wonder, in our last comments, if you could give us a sense of how we can use the tools that we have in front of us to try to get a better handle on this.

Dr Pegus: I'll start off by saying that when you think of the next big areas in healthcare—oncology and mental health or neurologic diseases—they are the two big areas where we have not tapped into the well of what we're going to do. And so there've been a couple of great online type tools, people using avatars. Some early studies have shown that you can pick up depression over the phone or on an online communication with patients who have a chronic condition and help direct them so that you're improving the management of their chronic condition. That helps improve their depression, and that's actually being done right now.

I think we have to broaden our minds of who the team is and who patients are comfortable sharing information with, and we have to get comfortable with working with those colleagues to provide better care.

Dr Topol: Any other comments about this before we wrap up this session?

Dr Weidner: I think it's about the human interaction, and it's about leveraging digital technology where it's appropriate to facilitate that human interaction—to be able to scale and spread the reach of a team of folks among patients. That team of folks will be folks selected for their ability to show empathy and to develop trust and relationships with patients. That will require time that a physician may not have in the current climate and using technology to facilitate the extra time, whether they're communication tools, monitoring tools, tracking tools, tracking one's smartphone activity.

Tracking social media activity and texting activity has led to algorithms used to determine who's at risk for worsening depression and mental illness, and technology really has the potential to do better work for more patients. I think ultimately that's the way we need to use technology as a facilitator of that human relationship and human care as opposed to replacements.

Dr Topol: I couldn't agree with you more about that.

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