November 17 2016

Promises and Limitations of the “Personalized Care” Movement: Where We Are Now

By Mark Sisson
15 Comments

Inline_Promises_and_Limitations_of_Personalized_MedicineSeveral years ago, I gave my take on the “personalized care” movement: the broad push to use a person’s genetic data to design optimal therapies, treatments, interventions, and pharmaceuticals. I was supportive and hesitantly optimistic, but I also acknowledged the limitations and drawbacks. Yes, genetics do determine how we respond to different therapies, and we can optimize medical care using the information—if we understand what our genes are saying and how they interact with the environment.

It’s only picked up steam. In last year’s State of the Union address, President Obama announced the Precision Medicine Initiative, pledging renewed efforts and funding to develop treatments tailored for an individual’s genetics, lifestyle, and environment. Businesses have sprung up promising to analyze your genetic data and create personalized workout routines, meal plans, and daily habits.

We’ve made big strides in personalized medicine.

We’re often able to fine-tune dosages of pharmaceuticals to avoid overdosing people with genetic sensitivities and under-dosing people with genetic resistance. It’s not exactly easy or fast, but it’s possible.

Researchers have identified genetic variants that increase statin-induced muscle damage. Doctors are choosing antidepressants based on a patient’s genetics (“pharmacogenomics”) and seeing a 53% improvement in reduction of depressive symptoms; they’re also using genetics to predict non-responding patients.

Since 2005, we’ve used genome-wide association studies (GWAS) to identify over 2000 “robust” associations between genetic variants and medical conditions and traits, many of which are predictive and medically useful.

Genetics determines how we react to different foods, nutrients, and exercising and feeding strategies. It can affect how much of each nutrient we need and how likely we are to become obeseWe know a fair amount about how recent ancestry impacts optimal diet, including folate requirements, carb tolerance, and dairy sensitivity. 

And because we contain far more microbial DNA than human DNA, analyzing the genomes of our gut biome could give us great insight into our immune, mental, and metabolic health.

There’s no “arrival.” There’s no perfect pinnacle of personalized medicine. It’s an uphill trudge with small wins and losses. There’s always something to learn and improve and overcome.

What are some current obstacles?

For one, there are very few “single genes.”

Most disorders and diseases (like cancer) are polygenic, not monogenic. Most traits (like height or cognition) are polygenic, not monogenic. Rarely will you find a perfect 1:1 match. This makes drawing actionable inferences from genetic data difficult. The more variables there are, the harder it is to discern the signal from the noise. `

Data is accurate. Analysis is lacking.

The genetic testing itself is very accurate. If you swab your cheek and send it off to 23andMe or DNAFit or Ancestry, the raw data is likely accurate. Where things break down is the interpretation of the data. When a blogger ordered genetic tests from several different companies, she got mixed results. The data was identical, but how each company interpreted the data differed substantially.

I’ve spoken glowingly of DNAFit in the past. And as far as the companies out there go, it’s probably the best one at analyzing the genetic data and providing actionable results. My own results matched what I’d experienced throughout my entire life of training and eating. And when the blogger notified DNAFit about some incongruities between their results and other companies’ results, they responded with a 2000 word justification of their interpretation of her data, complete with citations of the literature. The other companies either agreed to fix their mistakes or ignored her messages.

And, unfortunately, gut biome sequencing isn’t ready for prime time.

The gut biome is critical to our health. Sequencing and analyzing the members of a person’s gut biome could help us predict interactions with drugs and foods. It could give us a roadmap for feeding specific prebiotics, polyphenols, and other nutrients to target specific gut bugs. We’d know which probiotics to take to fill in any gaps. We could target baddies with the right antibiotics, rather than firebombing the entire gut. And we could compare our gut biomes to everyone else’s.

Unfortunately, popular testing services often differ in their results, and, assuming we have accurate results, they don’t tell us much about our health. We have rough associations between populations in the gut and some health conditions, but it’s not always consistent. Plus, we haven’t sequenced very many guts yet, so we’re flying blind.

The potential is clear. If we can identify all the genetic variants responsible for traits and untangle how they interact with environmental stimuli and lifestyle, we’ll have great control over our health and wellness. Throw in CRISPR, and things get even more interesting. We’re not quite there yet. There are lots of pieces, but they’re not in place.

It’s going to work though. Combining epigenetics, genetics, lifestyle, environment, the gut biome, ancestry, and high-powered technology will revolutionize medical care, nutrition, and fitness. I’m sure of it.

And as I’ve mentioned, personalized medicine is already viable in specific instances, like determining genetic drug tolerance and drug responsiveness, and identifying gene-disease associations. Is using your grandpa’s genetic data to determine his optimal coumadin dosage sexy or exciting? No, but it’s legit and utilitarian. And it proves that personalized medicine has a future.

But for now?

You’re still responsible for eating right, moving every day, playing as much as you can, lifting heavy things, getting out into nature, and all the rest. You can’t abrogate your agency. The promise of personalized medical care indistinguishable from magic at some future date doesn’t change that. No surprises there, of course.

I’m curious. Have you (or those you love) used aspects of personalized medicine? What’s been your experience? And whether or not you’ve had the opportunity to apply it to your own care, what’s your take on the personalized medicine picture—and emerging possibilities? Are you excited? Skeptical? Hopeful?

Thanks for reading, everyone. Take care.

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15 thoughts on “Promises and Limitations of the “Personalized Care” Movement: Where We Are Now”

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  1. I agree there’s great potential to improve health through increasing knowledge of what works uniquely for our own bodies. It’s the same as wearing shoes that actually fit instead of clomping around in one-size fits all boots. At the same time, you make a great point that we can’t let go of taking responsibility for our health through the choices we make. Healthcare, no matter how individualized and effective, can only go so far if we aren’t taking care of ourselves.
    Diana
    betterthanalive.com

  2. My experience with the medical profession in general is to stay as far away from them as possible by doing everything I can to optimize my health. The medical profession doesn’t want to be revolutionized. Far too many physicians still rely on pharmaceutical drugs as a be-all and end-all, never mind the toxic side effects of most of them. If you decline to go the drug route for a health issue and request alternatives from your doctor, you will likely get a blank stare and come up empty because they don’t know anything else.

    Combining epigenetics, genetics, lifestyle, environment, the gut biome, ancestry, and high-powered technology likely will change medical care for the better at some point, but in practical application, it won’t happen in my lifetime and probably not that of my children either.

    1. The doctors/nurses I know would love to go the alternative, drug-free route, and some are even open to dietary/lifestyle interventions as preferable. However, most patients would prefer just to take a pill and not have to bother with changing anything else.

      1. Shary, Hid Dudeness, in my humble opinion I think you are both on the spot. Personally, the day everything started to change was the day I decided to start taking responsibility. It applies on all sides: patients, doctors, scientists… Sadly, in our hectic world, for most of us our “responsibility pool” has been diverged from ourselves to job, kids, financial obligations, futilities etc… This leaves us with patients unable to make effort to take care of their own health; doctors unwilling to adapt to the newer, healthier notions for various reasons, including monetary incentive; as well as scientists that have to be right even if they are wrong, until (if) their theories are proven wrong… for the majority. This then creates this movement of very slow change, each time with pioneers growing slowly in numbers until it becomes mainstream. With a lack of integrity at every level of the chain it’s easy to see why it is broken, thus unable of great momentum.

        As far as the the benefits of the technological side of all this, the findings are interesting and most likely relevant. Just ironical that it will only help humanity trying to undo the damage it did to itself… in it’s own irresponsibility.

  3. I have not had any experience with personalized but I believe it is a very exciting frontier to conquer. This would take the guesswork out of medicine, exercise, diet, etc. Very cool stuff, can’t wait to see what the future has in store.

  4. I have used 23andme and DNAFit for further interpretation. Largely, the data came back as I might have expected, but I also do this sort of analysis for a living. There is a lot of space here for improvements to medicine and use of medications. Certainly, precision medicine has not progressed as quickly as some might like, but the hesitation and concern for validation of the genetic based testing is warranted.

  5. I did the AncestryDNA thing and then sent my raw data to another company and the top thing they listed was a 7.3x chance of developing hypertension. I was diagnosed with hypertension when I was 20.

  6. Health care knowledge is doubling at almost an exponential rate. I’m optimistic that a more personalized approach with less side effects for potential life-saving drugs and surgery will happen, along with a more holistic approach by allopathic doctors to include mind-body protocols as well as natural supplementation, diet, exercise etc. I see more-and-more of this and world-class institutions like the Cleveland Clinic are already moving in that direction.

  7. Very interesting read. I myself find that pain medication does nothing for me. I haven’t had anything stronger than Tylenol 3, but even that does nothing for the pain (if I take a dangerous amount, it dulls my wits enough to fall asleep, but the pain is still 100% there). Therefore I rarely use pain medication. In your post about placebos, I hypothesised that it could be an inverse placebo effect. I think it won’t work, therefore it doesn’t. It’s interesting to know that it could indeed be drug resistance. Unfortunately, I just can’t justify the expense of having my DNA analysed.

  8. I’m hopeful, but not expecting anything anytime soon. I did my testing with 23and Me. But really, it was more to add my results to “Science”. I take the surveys they send, answer the questions they ask, all to help build a knowledge base.

    For the results in the near term, I’m skeptical. We always get a lot wrong in the beginning of any science, so I’m not going to be disappointed.

    What I do find disappointing is the gut microbiome sequencing – there are people who have sent samples to different places at the same time, and things come back very differently. I understand the reasoning behind the company replies, but I think we’re a ways off yet in that area before we get anything worth reading.

  9. Genie, Promethease, MTHFRSupport, etc. and found other helpful sites. Much of it is actionable, and explained for example why I found many drugs too strong, had a very bad reaction to Optimark MRI contrast (poor CYP450 metabolism) and why I have an autoimmune condition (HLA DQ 2.5 heterozygous plus other increased risk for celiac). I’m one of those who must avoid metformin, folic acid and nitrous oxide. My diet is AIP and I supplement with A, D, K, sublingual B12, probiotics and choline (mmmm sunbutter Phat Fudge). Recent blood test results including NMR LipoProfile are perfect and pain is gone! All without a doctor.

    1. I’ve uploaded my 23andMe raw data to several third party reporting services, Genetic… then the above.

  10. I have read about personalized medicine over the years and it’s still a pretty young field. It’s going to be great but the technology is not yet in place and it’s not yet scalable because sequencing genetic data is not yet at an acceptable rate by the masses. For now it’s just a dream which will certainly become a reality but when it does though it’s going to disrupt everything.

    For example most persons have different cancers at a genetic level. So scientist is now trying to treat each individual differently in terms of cancer which I think is the right way. Gene therapy for example is going to be a great way to go about treating cancer but the technology is still not working as the way it supposed to and alot of cancer patients that have tried it have not survived.

    Then you have regulations, because the field is so young in terms of development and innovation. Goverments don’t know how to regulate it. For example when a company has your D.N.A who is going to own the data which is the markup of your life. There are alot of rough edges that needs to smooth out. But give it 20-50 years and everything that we can imagine now about the possibilities have a chance to become reality.

  11. One of the big puzzles in cancer treatments is why people with seemingly the same disease respond very differently to treatment. Since genetic sequences bg became available, there has been a lot of effort put in to figure out where the genome might tell us sonething about treatment response. For certain cancers, the genetic info has become as important as classical pathology. Granted, the science is still in its infancy, but I am very optimistic that it will over time help taylor treatments for the best imoact with the least avoidable side effects.

    On another note, I recently learned from an exercise physiologist that certain groups of individuals respond differently to classic aerobic exercise. For most of us, a good sprint imoroves conditioning. For some of us, it gets worse! There is hope that with a new whole body PET scanner this phenomenon can be studied, so that exercise recommendatiins can be better tailored to individuals.

    But as you said, laying a goid foundation by eating, sleeping and moving right will firmly remain our own resonsibility.

  12. My opinion — Because of health problems (while on a good diet, paleo with lots of vegetables, etc), I went to a homeopath for help. Ended up doing genetic testing. 3 places. Each one had contradictions plus the few vitamins I was taking came up that they were *bad* for me – Dr. Deans magnesium & trace mineral products (had been taking them nearly a year with some good responses), organic B complex (Garden of life) which I had to d/c because she told me ‘no methyl’ vitamins – that they are causing high homocysteine levels, and it also eliminated my B12 from Dr. Mercola for the same reason. Went to her due to lack of energy, lack of being able to keep up a good diet and exercise program, then of course started just feeling depressed and started not eating much of anything other than apples & nuts, then decided I had to snap out of it and made an appt with her. Through this genetic testing, she has managed to eliminate every single thing in my life that I used to replace bad things – like I got rid of mayo and all dressings (use your stuff) – oh no, can’t have those, no avocados allowed. Chicken will kill me, so no chicken. No corn (which is okay, avoid that anyhow), no cheese (like to eat some gouda for the K2), no pork, limit beef, no seafood, no tea, no cinnamon, no ginger, no more magnesium & trace minerals as it is carried in by a chloride molecule and is making my blood pressure high. And the list just goes on and on. But then there are the contradictions – one really outstanding one is a listed recommended neutraceutical saying to take methylcobalacin !! Hey, that was my B12 that is killing me ! There is more, but you get the point. So I stopped the magnesium immediately. Two days later, I started getting all kinds of muscle cramps in my back, ribs, hands, upper and lower legs, and was in such pain I could hardly walk. Two days ago, started on Dr. Mercola’s magnesium, and those started letting up just today. Up until I decided I needed some *help* I was a happier person, had things to work on, but feel I was better off on my own. So what I’ve done is kick myself in the hinney, put this genetic stuff behind me, and started to get back to what I KNOW is a decent/good diet, waiting for the energy to kick in so I can do some decent exercise, and then I am going to stay away from the homeopath, stick with my muscle testing, and NOT let myself get down, which just get worse when I start skipping meals and avoiding vegetables and the other things included in the paleo diet! Genetic testing? I’m sure it’s good for some, and can be very helpful – I see the potential – I’m just not interested in it, nor the contradictions or the interpretations of it. All done with that!