They are, as you say, trained to arrive at a diagnosis to the best of their ability and provide treatment. A challenging diagnosis, however, is a fully-fledged scientific investigation. This is where clinical researchers (MD PhD) can really shine, but it's hard to apply this to individuals; the typical direction follows funding first, which may not be of much help to any given patient. At any rate, this approach ultimately does not scale.
My hope is that new tools (accessible databases, better data collection, and a dash of ML) will get more patients in front of the right pair of eyes more often. The situation with life-threatening diseases is bad enough, but there are also huge opportunities for improved quality of life from vague, nagging, or intermittent illness diagnosis.
I think the issue here is not that physicians "are not investigators" but more-so that the financial realities are in no way aligned with dedicating massive amounts of time to any given patient. Physicians generally bill around $300/hour in cash only clinics, so I think it's a poor allocation of resources to expect them to dedicate 100s of hours to a more obscure patient. PhDs are dirt cheap, better to hand the odd case study off to them and let those with clinical skills focus on being clinicians to the more typical patient.
I'm a unicorn. No one knows what to do with my diseases. I've been told, with absolute certainty, for 25+ years that my worst one will eventually go away.
Finding effective treatments are more the result of drunken sailor's walk thru the solution space, than finding a leaf in a decision tree. I believe (but cannot prove) that'll be true of all rare multi-factor diseases.
The key point, advice is to never stop asking for help. Someone, somewhere out there has the answer.
I am appreciative when medical staff is required. But when it's not, ruthless automation must be out into place to contain costs.
Automated triage systems are already used at intake for urgent care clinics. They suck, partly because GIGO.
The challenge would be in creating software that can intelligently interact with a patient to surface the actual facts.
Humans are infinitely variable and read and interpret clues that we've barely identified let alone figured out how to automate reliably.
But that doesn't mean it's not possible. Machines will, one day, do this BETTER than humans can.
(Background: My colleque (MD PhD) who works in a precision oncology project from the bioinforatics side just lost a friend where he and other specialists where involved in the treatment. And that was not an exception. The search space of what might be the issue is just to big, the human population is to small to solve some genetic twirks (yet, hopefully).)
Edit: Sorry, overread your point about the not allowed treatment. You are right, the colleque above is able to predict better treatment in 65% of cases that gets applied only in 25% of patients (of total). Still, I would not go so far and say that those alternative treatments should also be applied right away because we would not know what would happen and while it may be good, side effects are a serious issue that cost lives, the hospital potentially millions (we are in europe, thank god) and are of limited scientific value. Studies will be done in to these treatments at a point in the near future but that may not help the current patients. This might sound cruel to you but it is probably the best we can do. Untested treatments are a serious problem, no good doctor would want to have anything to do with that, sorry.
As a physician in training however, I can assure you that some of us indeed know about mTOR and VEGF inhibitors, the signaling pathways, and what we could potentially use them for. We learn about it in school. If anything, this story is more of a commentary on how mandatory genetic testing may be more helpful in the treatment of rare diseases. Castleman's is a broad definition for what is going on. Some patients benefit from Anti-IL6 therapy, but maybe some, like Dr. Fajgenbaum, benefit from mTOR inhibitors like sirolimus. That makes me feel like each Castleman's patient may have a different underlying cause for the same severe symptoms.
As far as I know, physicians use certain medications for off label use. VEGF is of interest to me and my research, so I know how we've used the VEGF inhibitor Avastin (bevacizumab), originally approved for colon cancer, for macular degeneration. More and more uses are becoming known for many drugs.
As a side note, this patient's use of sirolimus to treat Castleman's is still akin to using a blunt device on the signaling pathway that mTOR is a part of. It still hasn't truly gotten him any closer to figuring out the cause of his Castleman's disease.
Most doctors are not trained researchers, like others have said. A researcher in a different field could be better equipped to solve a certain medical problem than a doctor, given that they have access to the right information.
Here, one should also consider that the doctor typically has 15 to 30 minutes to listen to a patient and come up with a solution, whereas a persevering patient can spend hours upon hours searching for solutions, correlations or clues on the internet and in the scientific literature.
http://tim.blog/2016/10/20/my-life-extension-pilgrimage-to-e...
There isn't a direct decision tree to follow.
https://news.ycombinator.com/item?id=12266170
My wife has since passed away unfortunately. I really need to write this all up at some point to close it off.
Anyway, I've come to understand that most doctors look at the scientific evidence indirectly.
They often have an excellent ability to follow a decision tree and work through the differential diagnosis. However, that decision tree is based on (a) observations and (b) what other doctors have tried. There's no attempt to look at the underlying mechanism to find novel solutions. So new basic research (e.g. on mTOR and VEGF as in the article) will have no effect on practice until it is proven in trials or until enough mavericks (like the patient in the article) have created a precedent.
It does make sense in terms of avoiding cost and harm -- biology is very complicated -- but I do think this conservative bias goes too far in cases where the treatments have been already proven safe in other contexts, or in cases where the alternative is already bleak.