In his column today, Matthew Herper brings up an important issue in personalized medicine. Namely, pharmaceutical companies need to proceed with caution as they pursue research, development, and sales of drugs tailored to "niche populations," or those for whom the drug will work only if they have the unique genetic variation of the disease being treated. Certainly, as we develop drugs in an era where we know more about how people will respond based on their genetic make-up, we will have to simultaneously create new research and financial paradigms that can sustain this important and necessary work.
However, that's not the end - or even the beginning - of the story.
Where Herper loses me is his narrow definition of personalized medicine. What he's talking about in this piece is pharmacogenetics (or pharmacogenomics) , which is one facet of personalized medicine. But personalized medicine is a much broader field of health care. In fact, given the relatively few targeted therapies that have actually made it to market, I would argue that pharmacogenetics is really a small piece of the personalized medicine pie.
We and others have defined personalized medicine as a predictive, preventive, participatory, and prospective approach to care that is individualized to patients based not only on their unique molecular information, but also on their unique clinical, social, behavioral, and environmental data. Planning for health is a critical component of personalized care. While many patients may have similar goals - continued health and wellness, weight loss, reduced blood pressure, improved insulin sensitivity - how they reach those goals is customized based on their unique profile identified through a comprehensive health risk assessment. Furthermore, a key component to the success of personalized medicine is engaging patients in the process - whether that means getting them on board with taking that tailored prescription medication, or getting in the recommended 2.5 hours of physical activity a week. Thus, tracking markers of health and disease, as well as compliance with recommended therapies over time, helps to keep both patient and provider mutually informed about how a patient is doing - and whether preventive action might be necessary to avert an event. Finally, when we get to the point in personalized medicine where we're using tailored pharmaceuticals, the patient likely has already developed disease - at least as far as where pharmacogenetics currently stands. Personalized medicine, if practiced as we're describing, is aimed first at preventing disease, and then mitigating the negative consequences of disease after it has developed. This is the true promise of personalized medicine - disease prevention that will reduce the skyrocketing rates of chronic diseases that cost the U.S. $2 trillion annually.
I agree with Herper - something "big and dangerous" did happen in personalized medicine today: An exciting drug discovery prompted debate over the promise of personalized medicine without considering personalized care beyond pharmacogenetics. By equating the two, we undermine the true possibilities of a personalized approach to care that goes well beyond what drugs to prescribe. And if we don't start implementing the features of personalized medicine that are readily accessible to us today at relatively minimal cost, then that truly will be a giant mess.
Finally, someone gets it, and comments meaningfully on this topic. The hype on personalized medication is beginning to really depress me --- time for me to have my genome sequenced, determine my dopamine receptor subtypes, their SNPs, the SNPs of all those pesky second messengers and modulators, then have a couple of PET scans, fNMR studies, and go find me my special, personal, brand of psychopharmaceutical....
ReplyDeleteAnd this is coming from a career reductionista biochemist!
Thank you for this piece, constant confusion about a genomic era have truly been depressing (and I work in genomics !). Once again today, the CF mutation is a bout a 6$ test in 1 hour, why on earth we would mix that with mega sequencers is beyond me.
ReplyDeleteIt took 23 years to come up with something for that tinny mutation. It is now time to take a look at how a genetic test is viable in any health care system, not for an individual. We keep throwing millions at prostate cancer, useful ? Not very much IMO...
What would happen today if everyone ate well and exercised properly... This is a pill nation... Sure there is a huge benefit to pharmaco genomics but like you said, it is just a very very small part of the global crisis in America. Need I remind people that there still countries in the world with average ages of 30 and 1 million death because of bad hygienic conditions, go dump terabytes of sequences on these folks and see how they use it... The same can be applied to our great modern society.
You're right, pharmacogenomics is only one piece of the personalized medicine puzzle. I can never get the "4 Ps" you cite right off the top of my head, but I do remember that 2 of them are predictive and preventive.
ReplyDeleteNonetheless, I'm cynical about the willingness of our wider population (pun intended) to change behaviors. Sadly, societal ethos mixed with a general refutation of personal responsibility seems to more than negate the benefits of our current knowledge about health and wellness.
Perhaps early genome-based prescriptive behavioral intervention--because of your data you NEED to do X, Y, Z--would help. No, we don't need genome sequencing to tell us the basics of what we should do to enhance our overall health, but using it to fine tune the recommendations and lend them more weight may provide a compelling behavioral lever. When it's ready for such application, of course.
I do believe that significant clinical benefits will be forthcoming. What's here now is just an iceberg tip and very much at the reactive end of the clinical spectrum. Implementing the proactive "Ps" will require a lot more work with public awareness as well as in the laboratory, however.
I think iceberg tip is what was being used 20 years ago, then 15 years ago, then again recently. We are still very much seeing the tip. This field might make a huge service to human kind by changing its tune. It's very much like energy conservation, it cost a lot less to save and consume less but who wants to slow down the economy ? Right ? It costs a lot less to have a healthier nation by prevention but who wants to stop mcdees, pill nations and a boatload of DNA sequencers.
ReplyDeleteI have a challenge for the author: I am a clinical geneticist in private practice. No really. A patient walks in and asks me to help them use personalized medicine to improve their health. What should happen, and how much should it cost?
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