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Personalized Medicine for Real (srconstantin.wordpress.com)
45 points by apsec112 10 months ago | hide | past | web | favorite | 9 comments

This is a nice article but doesn't discuss the most widely used and impactful application of "personalized medicine" thus far: selecting patients for inclusion in clinical trials based on their genetics. When you talk to people in the biotech and pharma world this is often what they mean by personalized medicine, although outside of biotech and pharma this definition is not what you think of when you hear "personalized medicine"

Studying homogeneous, genetically / biomarker-defined patient populations, rather than more heterogenous populations, meaningfully increases the success rates of clinical trials [0]. This is important because clinical trial failure, mostly Phase 2 and 3, is the biggest driver of the cost of drug development [1]

Interestingly, clinical trials are not more likely to succeed when the drug is developed to act on a particular genetic pathway -- ie, if you find a particular mutation related to disease, then develop a drug for that, you dont necessarily have a higher rate of clinical success. But defining your study population based on biomarkers does increase probability of success (can't find source offhand)

[0] https://academic.oup.com/biostatistics/article/20/2/273/4817...

[1] https://www.nature.com/articles/nrd3078

The post does specifically mention the outstanding need to better match patients with clinical trials, and given the author's expertise (and the other discussion in the post), I think it would be obvious to her that genetic tests would be one patient selection criterion. But she explicitly puts aside patient-trial matching.

I wonder if there's a market for personal med in identifying standard-of-care treatments that are either wrong generally or suboptimal specifically. There are a large number of therapies that remain in use only because nobody has taken the time to assess their efficacy (and safety) for anyone other than the majority of patients.

I work at a big pharma, and it's clear to me that every drug works well for some and not for others. Identifying the subgroups of patients that benefit most from which therapy would be a godsend, and for those with fast-progressing or lethal ailments, this could mean life-or-death. The same holds for avoiding therapies that are toxic for some subgroups, which can create more woes than the original disease did itself.

A concrete example. Hodgkins Lymphoma is often treated with a cocktail course of chemotherapies, often including bleomycin -- an antiquated poison that severely attacks lung tissue but has been found in recent years to accomplish little therapeutically. However, bleomycin is still a standard-of-treatment. Why? I believe it's because no authority has taken the time to rigorously re-assess it quantitatively and then petition the standards bodies to officially remove it as a standard approved course of care. As such, it's only the top cancer centers that are sufficiently attuned to recent outcome data to know they should avoid it. Everyone else remains vulnerable to this outdated risk, like treating the ill with mercury or leeches.

This has special meaning to me since my mother died from Hodgkins treatment with bleomycin. It destroyed her lungs and killed her will to continue any therapy against the slow growing cancer than overtook her perhaps years too soon. Only after the damage was done did we (and the oncologist) discover that bleomycin is no longer recommended since recent evidence has shown that it adds no appreciable efficacy. Yet it remains a standard of care for the disease.

Medicine is as often based on history as it is on cutting-edge science. The simple re-evaluation of existing treatments that don't work well for many, thereby breaking the chain of oft-bad medicine could save many lives and improve the outcomes of many more.

I'm assuming you're referring to RATHL? RATHL attempted to show a treatment regimen was non-inferior to bleo, and didn't. The results are quite controversial, and bleo remains standard of care for many Hodgkin's cases. However, that may change with future trials and more data. Bleo is, as you say, truly a poison. It hurts a lot of people. But on balance, it saves lives better than the alternatives when appropriately used.

Seems like MetaMed tried working on every buzzword in medicine. * Artificial Intelligence and diagnosis (check). * Evidence-based medicine (check). * Personalized medicine for all (check). Consider, for a moment, all the capital and smart minds working on those things. I'm certainly not saying that's a reason not to work in any of those fields. Rather, a small startup is probably better suited focusing on 1 specific hard problem and gaining sufficient domain knowledge in that area to do meaningful work.

> Personalized Lifestyle Optimization

The author is very down on this market, but it might be one of the easiest to develop if you could do it without all the pseudo-science. A lot of the research going on about gut biomes and how individuals process foods differently show that this could make a substantial impact on peoples lives with fairly little in the way of negative consequences or limiting of agency. I know a lot of people who would buy into this market if it wasn't priced too high.

I'm a computational biologist at a company that has briefly explored this space. The challenge to lifestyle optimization is that current genetic information is very limited in its utility. Either genetic variants have very little impact on health/disease phenotype, are very rare, or are not actionable. Consequently, the people in the general population will not have variants where they can take steps that will lead to a noticeable impact.

There are other areas of personalized medicine that are likely to have much higher impact, e.g., personalized drug responses. A well-understood application is Warfarin dosing, but a large number of drugs with bad side-effects are candidates for screening (and you only need to screen a smaller population of sick people looking for an optimal treatment).

You can get personalized medicine by going to your doctor regularly to discuss and set goals for your health. For many years I had the incorrect impression that you were only supposed to go to the doctor when you're sick. Humans are incredibly complex and sometimes they require maintenance in order to continue running optimally. For example, unless you have a great diet, which most people don't, it's unlikely you're getting all required nutrients and vitamins, which could manifest itself as all sorts of unexpected symptoms.

It can feel very frustrating to bring up a serious concern to your doctor only to have them dismiss it or to receive an ineffective treatment. But you shouldn't give up hope, they're really your best chance for success! If you feel like your concerns aren't being taken seriously then find a new doctor. Sometimes there's a list of possible treatments and you have to work your way through them until finding the one that's most effective; this can be incredibly annoying and demotivating, but it's incredibly important that you stick through it. Medical science is extremely complex and your doctor is doing their best to help you. Try writing down any symptoms or problems before your appointment; by providing as much information as possible to your healthcare provider you increase the chances that they'll be able to perform a successful diagnosis and treat your condition effectively.

If you have a medical condition then you should make it your responsibility to keep up with any and all related innovations and research. It's unrealistic to expect doctors to be on top of every single related change to what might be a fairly niche condition. Whenever you find something new or relevant you can bring it up to your doctor and discuss it with them.

I do wish there was a place to submit anecdotal data related to medical topics. You couldn't use the data to conclusively prove anything, but I'm sure it could help in identifying potential research topics of interest. It's entirely possible that there are communities or families which have accidentally discovered cures or treatments for conditions or symptoms which aren't widely known. A symptom could manifest itself very subtly and end up getting treated without anyone taking notice. For example: a spouse might notice that certain foods make their couple a bit short-tempered or grumpy so they start cooking those dishes less frequently. Perhaps by switching diets they avoid developing some terrible condition!

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