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Personalized Prevention, Part I

February 22, 2012

For a few years now, I’ve been thinking about the potential intersections of genetics/genomics/proteomics and connected health.  In fact, my colleague Kamal Jethwani and my daughter Julie coauthored a piece for the journal Personalized Medicine on the topic in 2010.  A summary and the reference is linked.  (I should also note that the figure I reproduced below is from that article with permission from the publisher.)

To learn more, I initially checked in with some local geneticists but their focus was on identifying genetic mutations in various cancers in order to predict therapeutic response.  This fascinating area was recently discussed in the NEJM in a piece called Preparing for Precision Medicine.  However, that is not exactly what I’ve been dreaming about.  I was thinking more about the potential to identify folks with propensity towards chronic illnesses like obesity, diabetes and hypertension using genetic techniques. Then, getting these individuals on connected health programs in an effort to change the course of their personal health history, before they wound up with these often avoidable, costly conditions.

A couple of months ago I had an email and subsequent visit by George Church, the world-famous geneticist and founder of the Personal Genome Project.  This conversation was pivotal for me as George is interested in collaborating with researchers who can track and map phenotype in such a way that we can match to genotype.  Our team is meeting with him again this week and I’m looking forward to an exciting collaboration to emerge.

The intersection of connected health and genetics is interesting and complex terrain, and I am going to break up the discussion into several posts.  Today I just want to introduce the concept of Personalized Prevention and get your reaction to it.  Subsequently, there will be posts on some of the lifestyle diseases that have a genetic component and how we might use connected health to address those conditions.  As a start, I want to make sure we are all on the same page as to the meaning of a couple of terms.

A person’s genotype is the manifestation of the DNA in their cells, i.e. genetic information.  An individual’s phenotype is the expression of those genes in terms of proteins, cell behavior and ultimately human traits and behaviors.  Some time ago, the visionaries in the world of genetics coined the term personalized medicine to refer to the idea that if we know your genotype, we can be precisely predictive of your risk of getting certain diseases, as well as your response to certain therapeutics.

The $1000 genome is nearing reality.  As a society, we’ve not yet begun to appreciate what this means.  There are all sorts of implications but the most mind-bending is the idea that we will eventually be able to create diagnoses that are unique to you and therapeutic responses that are equally unique.

Consider that we are constantly bombarded with messaging about health care that goes like this: “40% of patients had a positive response as compared to placebo.”  This sounds like a triumph at the population level, but what if you are one of the 60% that would not respond and we could predict that?  One of my professors was prescient on this matter back in the ‘70s and said, “Patients don’t really care what their percent likelihood of an outcome is.  For them, the outcome is 100% success or failure and they’d like to be able to predict it on that  binary level.”  Until very recently we’ve only been able to offer patients a sense of risk, but the time is coming where we will be able to be much more confident in our choices for them.

Connected health does this too.  It is the ‘phenotypic map’ that corresponds to the detailed ‘genotypic map’ the geneticists come up with.  Consider if we have a population of workers and we want to incent them to be more active.  Connected health can provide, at a minimum, a very precise measurement of the outcome.  It enables folks who are investing in the program to see — both at a population and individual level — whether the program is resulting in increased activity.

Healthrageous has had success with this in the employer/health plan market.  They are giving customers precise data on how their populations respond to various incentives and programs to increase activity and lower blood pressure. The company will be moving next into diabetes.  Healthrageous can measure a program’s success quite precisely, reporting % engagement, % that stick with the program through the end and % achieving clinically significant results.  In all cases, they are creating new industry norms, but equally exciting is the precision of their reporting.

The illustration below lays out the concept of Personalized Prevention graphically.  Individuals who are at risk to develop a chronic illness can be identified, then offered connected health programs as a tool to prevent progression.  Likewise, individuals who are not responding to connected health programs can be identified as candidates for genetic testing to uncover the reasons why not.

I think the best example of how this might work is for people who are overweight or obese.  There is now good evidence that people who gain weight reset their satiety thermostat, i.e., when they lose weight even to a previously low weight, their body sends their brain a signal that they are chronically hungry, as if trying to get them back to their overweight state.  Tara Parker-Pope covered this wonderfully in a recent NY Times Magazine article called The Fat Trap.

I’ll write more on this next time, but to me it makes great sense to try to identify folks at risk for weight gain and educate them about activity using smart pedometers.  The feedback loops that connected health provides allow for an intense education into how one can easily increase activity.  It seems that, knowing there is a risk of weight gain, and knowing that this extra weight would be incredibly hard to take it off, an individual might be motivated to sign up for an activity monitoring program. Finding the right motivational triggers is, in part, how we create Personalized Prevention.

So what do you think? Does the concept of Personalized Prevention make sense?

25 Comments leave one →
  1. February 23, 2012 12:10 am

    People don’t do what you tell them to do if they lack intrinsic motivation or a good kick up the rear! What’s more, they can’t SEE what a genetic test means for them- just some words. Sure they can see that their grandchild has Down’s Syndrome, but that’s because it doesn’t develop over time- it looks like what it is: an extra chromosome makes your face look different, cause & effect.
    I sincerely doubt that you will be able to motivate people to change their behaviour merely by giving them information, no matter how personalised. From observing the majority of people failing to maintain behaviours they KNOW will enable them to become or stay healthy, it seems as though adherence to any advice needs to be directly influenced by human intervention, or an extremely potent emotional appeal.
    For increasing exercise participation even an emotional appeal as strong as experiencing a heart attack still doesn’t cause many people to change their behaviour on their own. Public health specialists need to create conditions that are very hard to resist in order for the average person to exercise more and regularly.
    I would suggest people need a “friendly neighbourhood coach” who tries to create a local norm, by arranging to get everyone together at a variety of times for simple, moderate exercise. This should involve multiple cues, such as SMS messages, social media prompts (Facebook, Twitter etc) and even phoning them or knocking on their doors to remind them to get out and join in. If groups of neighbours initially went for a 20 minute walk together several times per week, under their coach or another neighbour’s supervision, you might create a norm and thus sustain the behaviour.
    Children learn to become regular exercisers by similar means. If they are surrounded by a household where regular exercise is the norm and parents are seen to exercise and enjoy it, children hardly need to be encouraged to join in. We see this sometimes on the media where a toddler becomes excellent at something like golf or tennis at a very early age because their parents do it a lot. If parents do ordinary, everyday exercise like walking or jogging, kids would most likely join in, but because most kids don’t see this happening, they learn not to exercise from an early age. Then the whole society ends up tending towards obesity, eating too much & the wrong sort of food and slouched on the couch in passive activity, eg. TV & video games.
    Realistically, everyone would exercise regularly if it was the norm, just as they learn to drive as teenagers. We just don’t have a society where exercise and eating right are the norm.

    • February 23, 2012 9:38 am

      Thanks so much for your thoughtful comment. In a future post, I’ll talk about the psychology of getting folks to adopt. Your points are insightful.

      • February 29, 2012 5:45 am

        Thank you for appreciating my rather long comment! I look forward to your further posts.

  2. February 23, 2012 8:37 am

    Not sure about the flowchart.

    Seems to me the value of genetic screening is early on when you can predict risk factors. By the time a chronic disease is identified today it is too late. In my view genetic screening should be offered to all in the early years of childhood if the parents consent, and otherwise at the age of consent should your parents have refused. Genetic screening may help patients identify personally with statistics when presented carefully..

    The real puzzle in health care today is about connecting with patients. Many people just do not believe that what the medical establishment tells them applies to them personally. So we have a big problem with alcohol abuse, obesity, drugs, smoking etc, etc. And although most people know it is bad, it is bad for somebody else. It is not that they don’t trust their doctors – medical professionals are the most trusted in our society.

    While people trust their doctors, my impression is that they don’t trust “official” information. We have had too many cases of misinformation – is milk good for you, do eggs cause heart disease, combo-jabs cause autism, drug x works and then it turns out that is doesn’t or has side-effects, a breast implant is safe/regulated or not, …. the list goes on. Genetic screening has to be very sensitive to this skepticism if it is to have any effect on actually changing behavior instead of running up costs further. It could even make things worse by legitimizing self-dosing – one drug dose does not suit all.

    Stimulating piece, look forward to reading more.

    • shmhealth permalink
      February 27, 2012 1:27 am

      I agree with this saying that in many cases people don’t trust much on the health-related information they officially receive. I think much more works are needed to be done to realize the pattern of trust among patients. But, I can say here that I personally have seen many cases where people after receiving their doctors’ diagnoses or recommendations, tried to validate them through checking available medical resources on the Internet (although they couldn’t make sure those resources were trustable enough), and also through seeking for some real stories about similar situations (given either by their own friends and relatives, or other patients with the same problems posting their stories unofficially on the Internet- discussion groups-).

  3. February 23, 2012 9:39 am

    Thanks for your thoughtful comment. There does seem to be a disconnect with how people view their relationship with their own doc and how they view health care information from higher level sources.

  4. February 23, 2012 11:22 am

    Thanks for the post. Absolutely, the idea of ‘Personalized Prevention’ is something much needed in this country, specifically pertaining to preventable conditions–obesity, hypertension, diabetes, etc.

    A few things. I agree, the genetic testing would be very helpful to identify folks “at risk”, preferably at an early age. However, it’s the much-needed behavior change, resulting from the testing, that seems to be the issue–as stated in some of the points raised in the 1st comment here. It’s probably unlikely that providing genetic testing info will translate into the needed behavior change…maybe initially, but probably not sustainable. Not unlike the Adam Bosworth’s initial idea of creating a Mint.com type of platform for creating healthy behavior change….he changed his tune in the revamp of his corporate wellness platform, Keas. Apparently the company is doing pretty well now!

    I realize it’s always easier to identify potential problems, and not suggest/brainstorm solutions. I guess my first comment is more of a question regarding the Connected Health Programs–what are they, how are they implemented, created for specific conditions?

    Again, I’m with Murfomurf in his comments regarding human intervention. Ideally, everyone would have his/her own ‘wellness coach’, arguably more important than his general physician (since it seems unrealistic the GP can fulfill this role given the current structure of healthcare). Someone to literally hold our hands and kick our butts (when needed). So if this may not be the most realistic solution for everyone in person, is there a way to simulate a similar human-emotive appeal virtually?? (Literally I’m asking here.;)

    The current work I’m doing revolves around the TTM of behavior change in conjunction with digital media (mainly videos). Would it be effective to show, in a video or series of videos, the story of people who have successfully made & sustained healthy behavior changes? (Basically the idea, is that the videos would serve as the real-life application of progressing through the stages of change, to eventually maintain it. ) More effective than something in writing telling us what we SHOULD do? OR maybe both working together would be effective?

    • shmhealth permalink
      February 27, 2012 1:32 am

      I agree with you that providing real (success) stories can be very effective for people. Everyday we all see that many people with the same diseases connect to each other on the Internet through discussion groups that they have created by themselves, to hear such stories from each other. And unfortunately, in some cases they trust those persons more than they do their doctors! And, it is clear that how much this can be risky (at least, because they think, in a superficial manner, that if just a number of symptoms are similar they can conclude that their problems or diseases are exactly the same, so start following or using those ways of treatments or problem solving).

      So, I think if a situation can be provided where these success stories can be sent (electronically) by doctors, or in some ways such self-distribution of information can be monitored, evaluated, or confirmed by doctors, it would be much better and safer.

      • February 27, 2012 11:16 am

        Agreed—regulation (to some degree) provided by medical physicians would be helpful toward a more thorough solution. If you’d like to discuss further, feel free to shoot me an email here: jseyfert@foreverathletes.com

  5. February 23, 2012 11:43 am

    thanks for your very thoughtful comment. I am planning on addressing the psychology of engagement in a future post. I agree that it is an empiric question whether identifying people before they have an illness and putting them on a program (any program) to keep them healthy will be effective. It is one of the hypotheses we’re hoping to test with the right collaborators.

  6. shmhealth permalink
    February 27, 2012 12:49 am

    Thank you for your wonderful post. I do believe that “personalized prevention” is an essential need in today’s health care system. As stated in the post, instead of just getting a general statement about the potential risks, with personalized prevention people can receive information and recommendations with much higher level of accuracy and confidence.

    At the same time, however, I believe that many other things should also be taken into consideration, in order to make the implementation of such a great idea more productive. It will be important to realize the things and aspects patients are concerned about, including: the level of trustworthiness they require, the evidence they need, their preference for the form of representing this info (video, text, etc.), the appropriate (or acceptable) level of complexity of the info (according to their specific level of health literacy), their required assurance about privacy and security, how often they want to receive this info, how and from whom they can ask their questions related to this data, and more.

  7. PaulD permalink
    February 29, 2012 3:24 pm

    The concept of Personalized Prevention certainly makes sense to me. It’s great to review the responses on this interesting topic. Hopefully many more pros and cons based on individual preferences will fall out from this collaboration to assist us with formulating innovative solutions to this healthcare challenge. I think if this is ever going to take off on a large scale it must be a fun thing to do.
    I have noted several takeaways from this short discussion. I tend to speculate a lot so please bear with me. 1. Most people don’t like to pay close attention to their health. 2. Most people worry about their weight. 3. Most people listen to their Doctors. 4. Most people listen to their friends and family. 5. Most people have an awareness of their family disease history. 6. K-12 healthcare education programs can educate parents through their children. 7. Most people like to play games. 8. Most people like to be rewarded.
    Perhaps for monitoring patients at home and while traveling, we require devices that are easy to use, interactive, and fun. These devices should be utilized in a gaming manner for both children and their parents. Who knows, in addition to capturing wellness information, we may be able to enhance the bond between parents and children (I envision this as a wellness measurement). Lastly we must provide information to our doctor and receive advice back. Rewards could come back in the form of reduced healthcare coverage costs, or perhaps an annual healthcare refund shared between you and your doctor for reduced hospitalizations and reduced doctor office visits. Imagine if we could make personalized prevention fun and rewarding!

  8. February 29, 2012 9:33 pm

    Thanks Paul for your thoughtful comments.

  9. March 1, 2012 5:14 am

    A lot of research has been done on achieving behavioral change and when you are really serious you have to raise prices or legislate – think of cigarette smoking, alcohol consumption, seat-belts.

    So while it is a nice idea to think of reimbursing wellness coaches, financial and legal measures are likely to work better.

    On genetic screening we need to think very carefully how to introduce this. Screening is quite a controversial topic with e.g. evidence that screening for breast and prostate cancer has done more harm than good on occasion. If the industry gets off on the wrong foot it will take years to repair the damage.

  10. March 1, 2012 7:58 am

    These are useful thoughts. I am in the process of preparing a post on the psychology of all of this and would welcome your thoughts at that time. The legislative angle is an interesting one. It took us ~ 50 years to get smoking down to about 20% of the population. If we wait that long for obesity and diabetes, the battle will be lost. Perhaps a combination of gov’t policy initiatives and individual motivators.

    Regarding your comments about screening: I did not have so much screening in mind as using genetic information as a tool to micro segment the population. I think these are different goals.

  11. March 1, 2012 10:07 am

    Your idea to focus on chronic diseases is great – I nearly said two or three, but that is not focus!

    I think to win trust it has to be a balanced view – so not everyone is likely to get diabetes when they don’t exercise but some will. Are you one of the at-risk category? If so …

    My Auntie Hilda ( a real person) lived well into her nineties on a pack of untipped cigarettes and a third of a bottle of scotch a day. She never took exercise. I guess we all know of these cases and this is why blanket statements don’t work to convince us individually of our personal risk. Likewise my father and grandfather were both significantly overweight and lived to a ripe old age – my father is still going strong at 89, loves a fried breakfast and eats fries as often as he can.

    People do believe in science and so with genetics/genomics/proteomics we have an opportunity to make a new attempt to convince people to change – but it has to be balanced and perceived as fair. Government propaganda over the last 50 years is discredited because it is patently not true in our own experience and is regularly corrected because the experts got it wrong. We need to get it right this time.

  12. March 16, 2012 2:59 pm

    Framing is critically important in developing innovative approaches. How do you decide when a program has been ineffective and a patient needs genetic testing? A low-impact behavior change will lead to large segments of the population going for genetic testing.

    Genetic testing may differentiate individuals who are at high-risk or at very low-risk. Low risk patients, such as the example provided by Chris Johnson, can indulge as they please. How would health care practitioners counsel these very low risk patients? Eat, drink and be merry, because your longevity genes will protect you against cancer and heart disease at young ages.

    On the other hand, genetic dispositions to addictions and gambling disorders are important to know about, which are often suggested by family history. Genetic testing will help family members make more informed decisions about whether to be a teetotaler, or not.
    I have reservations about the frame “personalized prevention” because it builds on personalized medicine, which is based predominantly on a positivistic, reductionist and mechanistic worldview of disease, as opposed to ecological, holistic and emergent worldview of health. To make this paradigm shift, we need to expand our worldview of disease to embrace ontological and complexity worldviews about health.

    No doubt, medications for treating obesity will be developed to re-adjust the satiety thermostat. But this is secondary prevention. What is a more powerful determinant of risk behaviors? The biomedical or psychosocial genome. Health is more of a social construct than a psychological or biomedical construct. What about individualized prevention? But this individualistic frame does not explicitly address the socio-psychological dynamics of health behaviors. What about socio-psychological prevention? This term implies that the social determinants of health behaviors are more powerful than individual determinants at population-based levels.

    Health care systems clearly lack the capacities to scale up health coaching for all, and we clearly need catalytic innovations, in addition to macro-level changes in public policies. What about family and peer health coaching programs, for patients and led by patients, developed under the stewardship of intersectoral leadership and action?

  13. March 19, 2012 12:30 am

    thanks so much for your thoughtful comment, Rick. I agree Health care systems can’t seem to get it done, so I’m placing a bet that an industry will spring up around traditional healthcare

  14. March 19, 2012 10:10 am

    I wonder Joe. I think it very difficult for traditional healthcare to innovate in this way – for one thing traditional healthcare lacks humility. When we go to traditional healthcare for help we know we will meet a succession of people who think they know better than we do – this is not a comfortable position from which to engage. And objectively, traditional healthcare has been wrong so often in my lifetime that the patronizing superiority smacks of arrogance.

    Perhaps a more humble approach will work better. “We don’t really know, so your opinion is perhaps better than ours. Where are you facts?”. At least then people may be stimulated to find out.

  15. March 19, 2012 10:11 am

    Joe, reread your post. Perhaps we are saying the same.

    • March 19, 2012 10:17 am

      We are certainly of same mind. I can’t say how effectively I communicated it, but I completely agree? If you have a chance, please read

      http://chealthblog.connected-health.org/2011/12/13/is-disruption-of-mainstream-healthcare-the-answer-to-our-crisis/

      I think this will confirm for you that we are on the same page.

      • March 19, 2012 10:51 am

        Thanks for the link. You summarize the situation well. Should I live in Boston I would be very motivated to join your team in Partners.

        In my recent engagements here I see conflicts between the main cost driver (labor) and the need for patients to take more responsibility. It seems to be going in the wrong direction. On the labor front our psychiatric hospitals are replacing trained nurses with “bouncers” and pushing more psychotic patients onto the streets (different budget), while with the elderly computer solutions are being pushed with no understanding of how to present these to the constituency so they are often rejected. Doctors do realize the risk of e.g. diabetes but are left to themselves to prescribe a regimen that might reduce risk. We have some success with medication compliance via pharmacies but this is mostly patient/family driven.

        I think the new solutions will emerge painfully bottom up – consumer driven. Likely outside current healthcare establishment and insurance systems. The positive I see is that the professionals almost all buy into the goals – they just do not see how to get the job done. I do not buy into the economic motivation for delaying change – doctors and specialists are not on the whole worried about their personal economic picture. The new possibilities have to be effective and patients need to drive. Doctors have to be convinced that it makes sense for better therapy, not for their wallet.

        Longer post than I intended. Sorry for that.

  16. March 27, 2012 5:11 pm

    you have given a well detailed information about personalized prevention. I hope that many people will benefit from this and actually get the genetic tests.

  17. April 10, 2013 12:10 am

    I don’t even know how I ended up here, but I thought this post was good. I don’t know who you are but definitely you’re going to a famous blogger if you are not already ;) Cheers!

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  1. Personalized Prevention, Part III: Applying the Model to Obesity « The cHealth Blog

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