Awesome. It’s great what is becoming possible in healthcare when you can keep asking questions until you’re no longer confused, and keep feeding data in, more than any overworked doctor could handle.
It won’t always be correct, and needs all the right disclaimers.
A friend of mine whose father is sadly very ill, made use of ChatGPT to interpret the oncology reports written about his dad. It helped him have deep technical conversations with multiple specialists and advocate for his dad, culminating in his advocacy for a treatment - that none of the specialists had thought of - which proved critical in extending his dad’s life. Now my buddy can chat to specialists in their own language and hands the info to ChatGPT to turn into layman’s terms for his dad - all of which my friend can check over for accuracy so he knows his dad is getting correct non-technical explanations.
I'm glad it worked out for your friend, but I can't help feeling extremely sad about this. What I mean is, why is the healthcare system so broken in the first place, that you need to take charge of your own diagnosis and treatment? AI in this case is a bandaid solution, improving something you shouldn't have to do all.
I don't know if it was once different, but this seems to be a constant both in the US for-profit model and the UK not-for-profit one. After all, you are the person who knows you best, and has your own interests most at heart. So you need to advocate for yourself. Which can be extremely difficult in some situations, so you also need family who understand and are willing to help you.
Many people think that in the futuristic year 2025, the "system" of doctors and professionals and tests will be monitoring your body and health, keeping you healthy. It is nothing of the sort and possibly never will be.
We can improve healthcare systems, sure. But everyone needs to take personal responsibility for their own health. What is daily life-altering pain for a patient is just a JIRA ticket to a health care provider. No one is more incentivized than you to dig in and fix it.
> why is the healthcare system so broken in the first place, that you need to take charge of your own diagnosis and treatment
Doctors have many patients and limited time. Patients have one concern (themselves) with many more available hours to think about that one case.
It is no different than lawyers, teachers, etc etc. you have to advocate for yourself because you have much more time to dedicate to your situation than they do. Think of professionals as conduits of expertise that you can rely on to a degree but are best used to augment your passion for your situation.
In other words, I don’t think this particular issue warrants calling the healthcare system broken (though there are many other reasons to do so).
The doctor's doing the equivalent of trying to diagnose and fix a bug where they're only given 10 minutes once a week to try and solve it (losing all their context in between) and can't directly check anything but the most superficial things. If they need more information, they have to refer the patient to somebody that can run check for one specific kind of issue in one specific place and will then provide a two sentence report back. Then they'll get another 10 minutes with that extra data point to try and come up with next steps. They can refer them to a specialist, and that person is going to only look at one small part of the context to try and come up with recommendations.
In this sort of setup it's _very_ easy to miss relevant information. Having somebody involved who is focused on the big picture and can surface relevant information and advocate based on it is really essential to getting the best outcomes.
And generally the only person involved to take on that role is... the patient. I don't think that makes the entire system broken, but it could definitely be improved.
The best solution I can think of is essentially to have someone with a medical background designated to take that role on your behalf. And apparently that's already a thing--a "case manager". (Though apparently in the US that term's been overloaded to mean "the person that works with your insurance company to do the wallet biopsy".) Though I haven't ever really run across anyone taking that role, and I'm certain wherever they are they're completely overworked and can't fulfill the role as effectively as we like.
I'm very much _not_ on the AI bandwagon and am really looking forward to all of this falling on its face so I can stop hearing about it and we can go back to finding solutions to problems instead of problems for solutions. However this does seem like one place where a LLM and adjacent developments could provide some benefit. A large part of advocating for yourself effectively is just knowing the right questions to ask and what information might be important to surface in the current situation. And all of this is being handed off to human experts, not being directly relied on or acted on by a laymen.
As a brief example: My wife developed a heart arrhythmia. The ER doctor was following the standard framework for dealing with this and was prescribing beta blockers and a blood thinner. While the ER doctor had a _lot_ of information in front of her face, what she didn't have was time to sit and dig through my wife's entire medical history. If she did, she would have found that the out-of-wack blood pressure readings she'd written off as "your heart's kinda fucked right now" were actually an on-going and previously diagnosed issue of low blood pressure.
In that moment I didn't need to understand everything or make any concrete recommendations, just make the connection "slower heart = less output?" + "already low output" = "problem?". Surfacing that information and asking the doctor whether we should be concerned didn't set the direction of her treatment, but it did change it. The doctor went to consult with a cardiologist before prescribing anything and came back with a different treatment plan.
It definitely seems like an area playing to an LLMs strengths (digesting a bunch of information and trying to relate it to the situation at hand) while avoiding the pitfalls. Ultimately everything is still in the doctor's hands, and the information it's giving is purely _additive_ and already being treated with suspicion. Even if it misses or hallucinates something we're not much worse off than we were without it.
We have a rather high overhead ratio in play. 1.1 million Physicians made a median salary of $239,200 in 2023, or around $263M.
U.S. health care spending grew 7.5 percent in 2023, reaching $4.9 trillion or $14,570 per person.
That's about 5% of healthcare spending going towards actual physicians. The logistic exigencies of dealing with insurance companies, seeking permission to treat, justifying, arguing, interacting with medical secretaries, is something on the order of an additional half of the typical doctor's time. They are strongly disincentivized from seeking out low probability explanations using tests which they need to seek permission to apply. They barely have the time to re-familiarize themselves with your chart.
We locked down the supply of physicians in 1997 via Congressional limits in how we fund medical residency slots. We further restrict physician time with problematically low rate setting in Medicare/Medicaid compensation, relative to market rates.
Everybody dies eventually. Everybody has healthcare needs.
A very large fraction of us will at some point suffer from some uncommon or rare condition, something that a physician doesn't see every day - a "zebra" rather than a "horse". There are enough of these conditions - tens of thousands now recognized - that the very low odds of having any particular problem adds up to high odds of suffering from at least one.
To recognize some of them, the doctor would need to synthesize an idea from half a dozen disparate pieces of information, two of which you've mentioned casually in a visit three years ago, two of which you've never told anyone, and one of which is in your chart, and one of which you mentioned casually to a specialist but who did not think it relevant enough to note down... And then they would need to do a differential against hundreds of megabytes of medical research. In five minutes allocated to your visit.
Doctors are trained with a certain degree of professional image to maintain, a sort of 'Wizard' status that must be kept to a tone of mysterious respect. Nobody wants uncertainty from a doctor, despite the fact that all of statistical reasoning and diagnostics is uncertainty, quantified. If they lose this image, it is felt, people start injecting bleach or suing them for malpractice or killing themselves over an innocuous granuloma that their doctor assures them is nothing. That is not a healthy environment to drill-down low evidence of probability outcomes.
Particularly if every test and treatment impoverishes you, and the impact of that poverty on your stress level and lifespan is dramatic.
While tripling the number of doctors would certainly help, AI and a great deal more population-scale diagnostics is just better suited to some of these limitations.
Is that what it will be used for? No. Initially, at least, it will actually be used to make everything worse, to automatically deny treatments, to argue with a doctor with the persistence of a chatbot.
And that's just for the stuff that's been medically recognized. Medical science has put comparatively little effort into researching ailments that cause chronic, non-contagious, non-fatal problems in your life, and less into resolving them. There is no agreement on how dandruff works, lower back pain was dismissed as psychogenic for decades, most headaches are undiagnosable, skincare is witchcraft.
A good doctor who sees you for a brief period every year is staring at your chart and furiously googling some of the things listed there to re-familiarize themselves for five or ten minutes before the visit, just to maintain an image of professional competency by not forgetting the words. Actually applying recent research... how?
> culminating in his advocacy for a treatment - that none of the specialists had thought of - which proved critical in extending his dad’s life.
I'm not sure how your friend could know that it was critical in extending his dad's life.
All treatment decisions in oncology are basically "look at the available data, make an educated guess which one is best for the patient".
When it comes to some treatments, it's more an art than a science. Plenty of the available data is anecdotal at best - small trials (or retrospective data) on half a dozen patients with no control.
The role of the oncologist is often being able to interpret that data to make the best recommendation they can. This isn't easy, and for most oncologists who aren't doing research (and arguing with other oncologists about the latest data), they are going to rely on guidelines which attempt to look at all the literature and make recommendations based on the most robust data.
But whether your friend's dad has gotten therapy X or Y, nobody knows what the course of the disease would have looked like using the alternative.
This has been my experience the last 2 years as well
In my local area’s subreddit, people are entirely dismissive of AI and will keep moving the goalpost about why you cant use it. It hallucinates! (But you can fact check it and I wrote that disclaimer) It warms the planet more than other research! (…. you’re not distinguishing between self hosted and data centers….)
But its Los Angeles and writers and actors and VFX are all getting replaced, so they have to keep saying ignorant stuff to sound relevant
No. You have to ask yourself why it hasn’t been used in this capacity more, and why so many billions are spent on pursuing crushing the arts and crafts into oblivion.
Given the published and (and currently expressing) philosophies of the primary investors and shareholders of those companies, it is no longer any mystery why!
To everyone here being dismissive of AI: you have no idea how it feels like to know you have something wrong, but receiving nothing but shrugs from the experts that are supposed to help you. I have experienced the very same thing: an orthopedist looked at my joint and wrist pain, the endocrinologist checked hormones, the rheumatologist ran their own tests. If I had to rely on my primary doctor to help, I would be taking ibuprofen and some other anti-inflammatory of their favorite big pharma.
I did a large amount of tests, including RSI and carpal tunnel, chasing what could be the source of my issue. I was only able to find out that I have Ankylosing spondylitis by talking to other people online, and asking my primary care doctor to test me specifically for the HLA-B27 antigen. I was just lucky to receive help from a random person on the internet: "why don't you check for X".
I imagine all the other people out there that were not lucky as me, or did not have access to that information. If AI can help with this, then it is great.
> you have no idea how it feels like to know you have something wrong, but receiving nothing but shrugs from the experts
I remember telling this to my dad 8 years ago and he still thought of me as just being weak or a hypochondriac. "It's all in your head son!" he would say.
2 years ago he started losing function of his left leg. A very snarky "It's all in your head dad!" was my first response when he started complaining. That was the beginning of his journey into understanding what I've been going through all these years. Today his left leg no longer works and he is also losing function of his right leg. He has abnormalities on his MRIs and EMG/Nerve conduction tests. Even with this, doctors have not been able to diagnose him with anything and all he gets is shrugs. He's extremely frustrated with the US health system and has decided to just give up and wither away instead.
It's nice to finally be validated by my dad, but I wish he didn't have to go through the same experience just to show a little empathy and understanding. I think most of the people in this thread will similarly have an impossible time understanding our predicaments until it affects them the same way.
I was sick for close to two years. I had excellent doctors who cared and tried their best. There were days where I was literally lying in bed because I was in so much pain. Despite that, the worse pain by far was not knowing what was wrong with me. That took it's toll more than anything. If someone said killing a puppy was the cure I would have done it in a heart beat. It's not something you can ever really understand until you live it for days, weeks, months, years...
My son nearly died, and my persistence was the only thing that saved him. I kept insisting on more blood tests, despite being told he was just dehydrated or going through typical teenage malaise, and that it would pass. Eventually, a blood test revealed something was seriously wrong, and we rushed him to the ER. The doctor told me that if we had waited another two or three days, my son likely wouldn’t have survived.
Now, I spend my evenings trying to learn as much as I can about basic medicine and delving into endocrinology. I don’t blame the doctors themselves—they’re overworked. But I do blame the system that pushes people toward becoming YouTubers instead of doctors.
I was also diagnosed recently with ankylosing spondylitis after years of pain in my back (I am 37).
For years I thought it was due to a lack of exercise but after spending a year doing yoga, Pilates and physiotherapy things only worsened to the point where I could barely walk and could not bend down at all.
I had to strongly insist to my GP that this was not normal. After a referral to an orthopedic surgeon he ordered an MRI. The results indicated possible AS so he referred me to a rheumatologist. Tested positive for HLA-B27. Another MRI and an X-Ray and the diagnosis was confirmed.
AI was very useful in explaining the test results and doctors letters in plain English.
I have an autoimmune disorder and so does my wife (getting her diagnosis, the same as yours incidentally, took years). Don't tell me I have no idea how it feels just because I don't agree with you.
What a coincidence! At the end of last year, I had uveitis for the second time, and my eye doctor advised me to investigate whether I have an autoimmune disorder. Two weeks ago, I underwent a blood test, but all my values came back normal. It was only after researching the HLA-B27 antigen online and discussing it with my doctor that I was able to persuade him to test me for it. Initially, he was reluctant, as he saw no reason to do so. Now, I have another blood test scheduled in three months, where I will finally find out if I have it.
This is the way. If we all did that, our health care system would be the best the world has ever seen. We mostly do the opposite. We give up on our own agency in terms of our health outcomes, then get on ozympic and demand cheap insulin to go with the cheap soda pop and fast food we love so much.
$100K 30 doctor visits, no answers, sounds like my experience with Ehlers Danlos Syndrome (hEDS), perhaps I missed it but did not see what the final diagnosis was. Autoimmune could be a lot of things.
If I feed in my symptoms today into AI, the same list I gave to doctors, I do get hEDS and specifically I get TNXB as a candidate gene. I don't include my WGS DNA data which came after I stoped bothering with doctors. AFAIK only specialists will diagnose hEDS and AFAIK absolutely none would predict TNXB. They call it clEDS instead and consider it 1 in a million, only if you have a specific TNXB SNP and it’s homozygous. Where I think most of hEDS is caused by presumed benign TNXB SNPs. Even the studies that specifically search for DNA candidates for hEDS skip over TNXB due to the belief that hEDS is rare and TNXB SNPs are common.
So I don’t know where AI it’s getting its info from but the TNXB theory is mostly a patient led theory held by some of us who have it. There are some fringe giftedness researchers who focus on the RCCX gene cluster - which incidentally cause a ton of autoimmune conditions.
So it’s definitely a situation where I think the answers from AI are far better than from doctors - I would have found out decades sooner. hEDS is such a perfect match for my symptoms that it becomes obviously true once I researched it so even if the AI guessed wrong it wouldn’t be worse than all of the doctors who guessed wrong. One even told me I should have thyroid surgery, thankfully I had already lost faith in them by that stage.
Whenever I come across folk with hEDS-like symptoms, I always like to bring up fluoroquinolone (FQ) antibiotics, as a "btw do you know about this?"
I have a suspicion that some non-trivial amount of the non-genetic EDS folks may suffer from fluoroquinolone antibiotic toxicity.
Among the many effects of FQs is how it can cause a net-loss of collagen in the body. It increases MMPs that breakdown collagen in the body. Part of the reason FQ antibiotics have a black box warning for tendon tearing.
I have a family member that was sure they had hEDS, but it turned out to be FQ toxicity. 20-30 courses over years that would degrade their health, one small bit at a time, unbeknownst to them. While safe for many, for some amount of the population, it can cause what feels like every bodily system slowly failing.
The frustrating bit of it all is how resilient the body is, and most common blood work shows up "normal."
FQ toxicity is likey caused by SNP in a specific gene related to pharmaceutical metabolism (one of the CYP450s). I believe this was published in the literature.
Another possibility is that FQ toxicity is caused by certain genes relating to detoxifying (GSH, COMT, etc) - where the body incorrectly metabolises it, leading to toxicity against cells.
Similarly rare is the "traditional" EDS phenotype with stretchy skin and hypermobile joints. Usually seeing them for shoulder dislocations or other orthopedic injuries.
By far the most common (and massively increased over the past few years) is the crowd that attracts all the eye rolls. These are almost exclusively women, usually white, age 16-35, presenting with a constellation of nonspecific chronic complaints including myalgias/arthralgias, fatigue, GI symptoms, etc. None of them have stretchy skin or abnormally hypermobile joints. Very high rate of fibromyalgia/POTS/CFS in this group. They're usually coming to the ED for diffuse pains, dizziness, or something else I really can't fix. Maybe there is some underlying organic disorder we haven't sorted out yet, maybe these are somatic manifestations of untreated anxiety/depression.
One thing about the hEDS diagnosis is the explosion of self-dx from social media (TikTok) which makes physicians cringe.
There's no good genetic test, and even if there was there is not much to be done other than supportive measures.
I believe that you're a doctor because your response is exactly typical for a doctor. Have you considered for a second that all these people are right and that you might be wrong? I am similarly self diagnosed. 30 years of not being able to get a diagnosis despite having hypermobility so severe I can subluxate either shoulder on demand, I also had all of those other issues you mention - it's a cluster for a reason.
Hear me out, what if hEDS was 1/50 and not 1/50K or 1/15K or 1/5K or 1/500 or whatever the current literature has it at - which as a data science person is some rather large order of magnitude error bars for a figure. The 1/50 would include those diagnosed with generalized joint hypermobility, this would allow for the more common TNXB SNPs to be causal for hEDS.
And yeah, I've been told by many doctors that it's not worth even testing for because there is no treatment. Also consider the second order effects of not testing - how would you validate the original % numbers if people keep being talked out of getting tested, would subsequent surveys of population include those being talked out of the test? It's a good thing I don't rely on people who can't detect a condition to treat the condition. It is indeed very treatable - the dysautonomia aspect especially so.
Anyone doubting this really has no idea what they're talking about.
Set up a "Health & Fitness" project in Claude (or whatever). Feed it:
* Basic data: height, weight, age, sex
* Basic metric snapshots from Apple Health or whatever: HRV range, RHR, typical sleep structure - go through everything and summarize it
* Typical diet (do you track it in MFP or Cronometer? Great, upload a nutrition report)
* Any supplements and medications you take
* Typical exercise habits
* Any health records you have - bloodwork results, interpreted imaging results, etc.
* Family history like you would describe it to a doctor
* Summary of any health complaints
* Anything else that seems relevant.
Then go through a few conversation loops asking it if there's any more information you could provide that would help it be more useful.
Then ask it things like "Given <health complaint>, what should I be doing more of? Less of?"—or "Please speculate about potential causes of <thing>".
Or, even if you don't have any particular health complaints you're working with, just being able to ask it questions like "What's one supplement I should consider starting or stopping today?" (and then obviously do some follow-up research...)
This is life-changing. Anyone skeptical of this has not tried it.
Troubleshooting some chronic inflammation issues (plausibly, like OP, an autoimmune issue)
It's suggested a few supplements that have helped a lot, helped me figure out dosing and timing, pointed me towards taking gut inflammation more seriously as a part of what's going on (and suggesting various tests and experiments to help prove/disprove that), explained correlations in various bloodwork results, the list goes on.
It's—of course—not perfectly trustworthy but a lot of things are either trivially verifiable or are low-risk experiments.
> The most frustrating part wasn't just the lack of answers - it was how fragmented everything was. Each doctor only saw their piece of the puzzle: the orthopedist looked at joint pain, the endocrinologist checked hormones, the rheumatologist ran their own tests. No one was looking at the whole picture. It wasn't until I visited a rheumatologist who looked at the combination of my symptoms and genetic test results that I learned I likely had an autoimmune condition
>> It wasn't until I visited a rheumatologist who looked at the combination of my symptoms and genetic test results that I learned I likely had an autoimmune condition
I'm conflicted on this. On one hand, no one can seriously argue that the healthcare system(esp in the US) is good or even adequate for the edge cases. The process is a lot like navigating tech support where the initial layers are oriented towards rapid triage and (barely) adequate resolution of the most common cases. Note that this does not mean that the individuals are not capable of more. It's just that the system is not set up to do so. Getting through to 'L2' support can be just as frustrating as in the tech world.
On the other hand, interpreting domain specific data takes a lot of training and experience. Somewhat similar to looking at logs, knowing what to ignore is often more important. LLMs can dump a bunch of possible causes, some of which are perhaps hallucinated, however knowing what next steps to take with the results isn't really something most people will be capable of.
Perhaps the most likely immediate benefit for tools like this might be for the individuals who are motivated and determined enough to put in the time and gain the knowledge necessary to be effective with such tools(like with most things in life).
One thing is for sure though. As others have pointed out in this thread, you need to be your own advocate in the healthcare system.
Also, guess what rheumatologists specialize in. I'd give you a hint, it starts with 'a' and ends with your body's immune system mistaking healthy tissue for a disease.
Technically, the rheumatologist didn't do anything any other doctor didn't already do. They saw the problem in terms of their specialty.
Which isn't the worst way for them to approach things. I will go to a foot doctor if I believe it's my foot. A joint doctor for my joints. Going to specialists is pointless if you don't have any idea of what's going on. That's why GPs exist, to try and steer people to the appropriate specialist.
RAG + analysis on health data has huge potential. We need to tread carefully, obviously, but I have also used these models + RAG on personal health data at times when the docs were scratching my head. It was very helpful, although I approached it a bit differently. In my case it was my infant in the hospital for breathing / eating issues. I took data from the network tab in mychart and added context additional context, then asked Claude questions. My main goal was to be prepared for rounds in the morning. I wanted to understand what types of information each test was going to give me.
It was pretty good! Unsurprisingly, it did hallucinate sometimes or miss some nuance. But, I knew I was talking to something that did that. It was helpful for me, even with errors. I didn't, however try to just say "hey given all this what's going on with my baby"
On another topic:
If I were you, I'd make this thing speak FHIR or some other common format. That'd make using this thing in an ecosystem of other tools a lot easier. There are even FHIR graphql apis you could just polp on top maybe.
Readit News
It won’t always be correct, and needs all the right disclaimers.
A friend of mine whose father is sadly very ill, made use of ChatGPT to interpret the oncology reports written about his dad. It helped him have deep technical conversations with multiple specialists and advocate for his dad, culminating in his advocacy for a treatment - that none of the specialists had thought of - which proved critical in extending his dad’s life. Now my buddy can chat to specialists in their own language and hands the info to ChatGPT to turn into layman’s terms for his dad - all of which my friend can check over for accuracy so he knows his dad is getting correct non-technical explanations.
That is massive empowerment.
We can improve healthcare systems, sure. But everyone needs to take personal responsibility for their own health. What is daily life-altering pain for a patient is just a JIRA ticket to a health care provider. No one is more incentivized than you to dig in and fix it.
Doctors have many patients and limited time. Patients have one concern (themselves) with many more available hours to think about that one case.
It is no different than lawyers, teachers, etc etc. you have to advocate for yourself because you have much more time to dedicate to your situation than they do. Think of professionals as conduits of expertise that you can rely on to a degree but are best used to augment your passion for your situation.
In other words, I don’t think this particular issue warrants calling the healthcare system broken (though there are many other reasons to do so).
In this sort of setup it's _very_ easy to miss relevant information. Having somebody involved who is focused on the big picture and can surface relevant information and advocate based on it is really essential to getting the best outcomes.
And generally the only person involved to take on that role is... the patient. I don't think that makes the entire system broken, but it could definitely be improved.
The best solution I can think of is essentially to have someone with a medical background designated to take that role on your behalf. And apparently that's already a thing--a "case manager". (Though apparently in the US that term's been overloaded to mean "the person that works with your insurance company to do the wallet biopsy".) Though I haven't ever really run across anyone taking that role, and I'm certain wherever they are they're completely overworked and can't fulfill the role as effectively as we like.
I'm very much _not_ on the AI bandwagon and am really looking forward to all of this falling on its face so I can stop hearing about it and we can go back to finding solutions to problems instead of problems for solutions. However this does seem like one place where a LLM and adjacent developments could provide some benefit. A large part of advocating for yourself effectively is just knowing the right questions to ask and what information might be important to surface in the current situation. And all of this is being handed off to human experts, not being directly relied on or acted on by a laymen.
As a brief example: My wife developed a heart arrhythmia. The ER doctor was following the standard framework for dealing with this and was prescribing beta blockers and a blood thinner. While the ER doctor had a _lot_ of information in front of her face, what she didn't have was time to sit and dig through my wife's entire medical history. If she did, she would have found that the out-of-wack blood pressure readings she'd written off as "your heart's kinda fucked right now" were actually an on-going and previously diagnosed issue of low blood pressure.
In that moment I didn't need to understand everything or make any concrete recommendations, just make the connection "slower heart = less output?" + "already low output" = "problem?". Surfacing that information and asking the doctor whether we should be concerned didn't set the direction of her treatment, but it did change it. The doctor went to consult with a cardiologist before prescribing anything and came back with a different treatment plan.
It definitely seems like an area playing to an LLMs strengths (digesting a bunch of information and trying to relate it to the situation at hand) while avoiding the pitfalls. Ultimately everything is still in the doctor's hands, and the information it's giving is purely _additive_ and already being treated with suspicion. Even if it misses or hallucinates something we're not much worse off than we were without it.
Worldwide, doctors aren’t given the time to work through the issues properly.
U.S. health care spending grew 7.5 percent in 2023, reaching $4.9 trillion or $14,570 per person.
That's about 5% of healthcare spending going towards actual physicians. The logistic exigencies of dealing with insurance companies, seeking permission to treat, justifying, arguing, interacting with medical secretaries, is something on the order of an additional half of the typical doctor's time. They are strongly disincentivized from seeking out low probability explanations using tests which they need to seek permission to apply. They barely have the time to re-familiarize themselves with your chart.
We locked down the supply of physicians in 1997 via Congressional limits in how we fund medical residency slots. We further restrict physician time with problematically low rate setting in Medicare/Medicaid compensation, relative to market rates.
Everybody dies eventually. Everybody has healthcare needs.
A very large fraction of us will at some point suffer from some uncommon or rare condition, something that a physician doesn't see every day - a "zebra" rather than a "horse". There are enough of these conditions - tens of thousands now recognized - that the very low odds of having any particular problem adds up to high odds of suffering from at least one.
To recognize some of them, the doctor would need to synthesize an idea from half a dozen disparate pieces of information, two of which you've mentioned casually in a visit three years ago, two of which you've never told anyone, and one of which is in your chart, and one of which you mentioned casually to a specialist but who did not think it relevant enough to note down... And then they would need to do a differential against hundreds of megabytes of medical research. In five minutes allocated to your visit.
Doctors are trained with a certain degree of professional image to maintain, a sort of 'Wizard' status that must be kept to a tone of mysterious respect. Nobody wants uncertainty from a doctor, despite the fact that all of statistical reasoning and diagnostics is uncertainty, quantified. If they lose this image, it is felt, people start injecting bleach or suing them for malpractice or killing themselves over an innocuous granuloma that their doctor assures them is nothing. That is not a healthy environment to drill-down low evidence of probability outcomes.
Particularly if every test and treatment impoverishes you, and the impact of that poverty on your stress level and lifespan is dramatic.
While tripling the number of doctors would certainly help, AI and a great deal more population-scale diagnostics is just better suited to some of these limitations.
Is that what it will be used for? No. Initially, at least, it will actually be used to make everything worse, to automatically deny treatments, to argue with a doctor with the persistence of a chatbot.
And that's just for the stuff that's been medically recognized. Medical science has put comparatively little effort into researching ailments that cause chronic, non-contagious, non-fatal problems in your life, and less into resolving them. There is no agreement on how dandruff works, lower back pain was dismissed as psychogenic for decades, most headaches are undiagnosable, skincare is witchcraft.
A good doctor who sees you for a brief period every year is staring at your chart and furiously googling some of the things listed there to re-familiarize themselves for five or ten minutes before the visit, just to maintain an image of professional competency by not forgetting the words. Actually applying recent research... how?
I'm not sure how your friend could know that it was critical in extending his dad's life.
All treatment decisions in oncology are basically "look at the available data, make an educated guess which one is best for the patient".
When it comes to some treatments, it's more an art than a science. Plenty of the available data is anecdotal at best - small trials (or retrospective data) on half a dozen patients with no control.
The role of the oncologist is often being able to interpret that data to make the best recommendation they can. This isn't easy, and for most oncologists who aren't doing research (and arguing with other oncologists about the latest data), they are going to rely on guidelines which attempt to look at all the literature and make recommendations based on the most robust data.
But whether your friend's dad has gotten therapy X or Y, nobody knows what the course of the disease would have looked like using the alternative.
In my local area’s subreddit, people are entirely dismissive of AI and will keep moving the goalpost about why you cant use it. It hallucinates! (But you can fact check it and I wrote that disclaimer) It warms the planet more than other research! (…. you’re not distinguishing between self hosted and data centers….)
But its Los Angeles and writers and actors and VFX are all getting replaced, so they have to keep saying ignorant stuff to sound relevant
Given the published and (and currently expressing) philosophies of the primary investors and shareholders of those companies, it is no longer any mystery why!
I did a large amount of tests, including RSI and carpal tunnel, chasing what could be the source of my issue. I was only able to find out that I have Ankylosing spondylitis by talking to other people online, and asking my primary care doctor to test me specifically for the HLA-B27 antigen. I was just lucky to receive help from a random person on the internet: "why don't you check for X".
I imagine all the other people out there that were not lucky as me, or did not have access to that information. If AI can help with this, then it is great.
I remember telling this to my dad 8 years ago and he still thought of me as just being weak or a hypochondriac. "It's all in your head son!" he would say.
2 years ago he started losing function of his left leg. A very snarky "It's all in your head dad!" was my first response when he started complaining. That was the beginning of his journey into understanding what I've been going through all these years. Today his left leg no longer works and he is also losing function of his right leg. He has abnormalities on his MRIs and EMG/Nerve conduction tests. Even with this, doctors have not been able to diagnose him with anything and all he gets is shrugs. He's extremely frustrated with the US health system and has decided to just give up and wither away instead.
It's nice to finally be validated by my dad, but I wish he didn't have to go through the same experience just to show a little empathy and understanding. I think most of the people in this thread will similarly have an impossible time understanding our predicaments until it affects them the same way.
Now, I spend my evenings trying to learn as much as I can about basic medicine and delving into endocrinology. I don’t blame the doctors themselves—they’re overworked. But I do blame the system that pushes people toward becoming YouTubers instead of doctors.
For years I thought it was due to a lack of exercise but after spending a year doing yoga, Pilates and physiotherapy things only worsened to the point where I could barely walk and could not bend down at all.
I had to strongly insist to my GP that this was not normal. After a referral to an orthopedic surgeon he ordered an MRI. The results indicated possible AS so he referred me to a rheumatologist. Tested positive for HLA-B27. Another MRI and an X-Ray and the diagnosis was confirmed.
AI was very useful in explaining the test results and doctors letters in plain English.
It took 8 months from my first acute back pain problems to the diagnostic.
If I feed in my symptoms today into AI, the same list I gave to doctors, I do get hEDS and specifically I get TNXB as a candidate gene. I don't include my WGS DNA data which came after I stoped bothering with doctors. AFAIK only specialists will diagnose hEDS and AFAIK absolutely none would predict TNXB. They call it clEDS instead and consider it 1 in a million, only if you have a specific TNXB SNP and it’s homozygous. Where I think most of hEDS is caused by presumed benign TNXB SNPs. Even the studies that specifically search for DNA candidates for hEDS skip over TNXB due to the belief that hEDS is rare and TNXB SNPs are common.
So I don’t know where AI it’s getting its info from but the TNXB theory is mostly a patient led theory held by some of us who have it. There are some fringe giftedness researchers who focus on the RCCX gene cluster - which incidentally cause a ton of autoimmune conditions.
So it’s definitely a situation where I think the answers from AI are far better than from doctors - I would have found out decades sooner. hEDS is such a perfect match for my symptoms that it becomes obviously true once I researched it so even if the AI guessed wrong it wouldn’t be worse than all of the doctors who guessed wrong. One even told me I should have thyroid surgery, thankfully I had already lost faith in them by that stage.
I have a suspicion that some non-trivial amount of the non-genetic EDS folks may suffer from fluoroquinolone antibiotic toxicity.
Among the many effects of FQs is how it can cause a net-loss of collagen in the body. It increases MMPs that breakdown collagen in the body. Part of the reason FQ antibiotics have a black box warning for tendon tearing.
I have a family member that was sure they had hEDS, but it turned out to be FQ toxicity. 20-30 courses over years that would degrade their health, one small bit at a time, unbeknownst to them. While safe for many, for some amount of the population, it can cause what feels like every bodily system slowly failing.
The frustrating bit of it all is how resilient the body is, and most common blood work shows up "normal."
Another possibility is that FQ toxicity is caused by certain genes relating to detoxifying (GSH, COMT, etc) - where the body incorrectly metabolises it, leading to toxicity against cells.
By far the most common (and massively increased over the past few years) is the crowd that attracts all the eye rolls. These are almost exclusively women, usually white, age 16-35, presenting with a constellation of nonspecific chronic complaints including myalgias/arthralgias, fatigue, GI symptoms, etc. None of them have stretchy skin or abnormally hypermobile joints. Very high rate of fibromyalgia/POTS/CFS in this group. They're usually coming to the ED for diffuse pains, dizziness, or something else I really can't fix. Maybe there is some underlying organic disorder we haven't sorted out yet, maybe these are somatic manifestations of untreated anxiety/depression.
One thing about the hEDS diagnosis is the explosion of self-dx from social media (TikTok) which makes physicians cringe.
There's no good genetic test, and even if there was there is not much to be done other than supportive measures.
Hear me out, what if hEDS was 1/50 and not 1/50K or 1/15K or 1/5K or 1/500 or whatever the current literature has it at - which as a data science person is some rather large order of magnitude error bars for a figure. The 1/50 would include those diagnosed with generalized joint hypermobility, this would allow for the more common TNXB SNPs to be causal for hEDS.
And yeah, I've been told by many doctors that it's not worth even testing for because there is no treatment. Also consider the second order effects of not testing - how would you validate the original % numbers if people keep being talked out of getting tested, would subsequent surveys of population include those being talked out of the test? It's a good thing I don't rely on people who can't detect a condition to treat the condition. It is indeed very treatable - the dysautonomia aspect especially so.
Set up a "Health & Fitness" project in Claude (or whatever). Feed it:
* Basic data: height, weight, age, sex
* Basic metric snapshots from Apple Health or whatever: HRV range, RHR, typical sleep structure - go through everything and summarize it
* Typical diet (do you track it in MFP or Cronometer? Great, upload a nutrition report)
* Any supplements and medications you take
* Typical exercise habits
* Any health records you have - bloodwork results, interpreted imaging results, etc.
* Family history like you would describe it to a doctor
* Summary of any health complaints
* Anything else that seems relevant.
Then go through a few conversation loops asking it if there's any more information you could provide that would help it be more useful.
Then ask it things like "Given <health complaint>, what should I be doing more of? Less of?"—or "Please speculate about potential causes of <thing>".
Or, even if you don't have any particular health complaints you're working with, just being able to ask it questions like "What's one supplement I should consider starting or stopping today?" (and then obviously do some follow-up research...)
This is life-changing. Anyone skeptical of this has not tried it.
It's suggested a few supplements that have helped a lot, helped me figure out dosing and timing, pointed me towards taking gut inflammation more seriously as a part of what's going on (and suggesting various tests and experiments to help prove/disprove that), explained correlations in various bloodwork results, the list goes on.
It's—of course—not perfectly trustworthy but a lot of things are either trivially verifiable or are low-risk experiments.
Also, perhaps more often useful, is just "hey, tell me about ___ in the context of whatever I've told you about me" kind of thing".
Sometimes, yeah, the suggestions are very generically applicable and it's just a tool for thought.
>> It wasn't until I visited a rheumatologist who looked at the combination of my symptoms and genetic test results that I learned I likely had an autoimmune condition
On the other hand, interpreting domain specific data takes a lot of training and experience. Somewhat similar to looking at logs, knowing what to ignore is often more important. LLMs can dump a bunch of possible causes, some of which are perhaps hallucinated, however knowing what next steps to take with the results isn't really something most people will be capable of.
Perhaps the most likely immediate benefit for tools like this might be for the individuals who are motivated and determined enough to put in the time and gain the knowledge necessary to be effective with such tools(like with most things in life).
One thing is for sure though. As others have pointed out in this thread, you need to be your own advocate in the healthcare system.
Also, guess what rheumatologists specialize in. I'd give you a hint, it starts with 'a' and ends with your body's immune system mistaking healthy tissue for a disease.
Technically, the rheumatologist didn't do anything any other doctor didn't already do. They saw the problem in terms of their specialty.
Which isn't the worst way for them to approach things. I will go to a foot doctor if I believe it's my foot. A joint doctor for my joints. Going to specialists is pointless if you don't have any idea of what's going on. That's why GPs exist, to try and steer people to the appropriate specialist.
It was pretty good! Unsurprisingly, it did hallucinate sometimes or miss some nuance. But, I knew I was talking to something that did that. It was helpful for me, even with errors. I didn't, however try to just say "hey given all this what's going on with my baby"
On another topic:
If I were you, I'd make this thing speak FHIR or some other common format. That'd make using this thing in an ecosystem of other tools a lot easier. There are even FHIR graphql apis you could just polp on top maybe.