[Some] Doctors Don't Like Running Tests
Summary: Some doctors don’t like running tests if they don’t that think it will result in a change in patient management or direct changes in patient outcomes. This directly impacts what diagnostic tools will be adopted, and in turn what tools VCs will fund.
On Monday we went into Chiba University Hospital to see the Neurologist for my son who is intellectually disabled.
Part of our conversation went like this:
Me: What are the standard tests that he should have done.
Doctor: Um... Basically, in Japan, rather than thoroughly investigating the cause, the standard approach is to follow along and make it easier for this child to live.
Me: So you don’t do any tests?
Doctor: If something different that can be done...
Me: I understand there are no therapeutics for intellectual disability1. If he has fragile X it effects my daughters children. So of course you do tests.
The basic standard as outlined by the American Academy for Pediatrics is fragile X, Microarray (CMA) and metabolic testing before moving on to brain imaging, gene panels, whole genome sequencing etc.
Their 2004 report elucidates the reasons for testing, even in the absence of therapeutics quite succinctly:
“Accurate etiologic determination, despite the fact that many disorders have no specific therapeutic interventions, has specific implications regarding treatment, prognosis, ongoing medical management of associated conditions, assessment of recurrence risk, counseling of families if there is a risk of recurrence, and implementation of prevention programs. Determining causality also empowers the affected family in planning for their child and limits further unnecessary testing.”
In the case of intellectual disability, there are a number of potential genetic causes (fragile X among others) which would be a consideration in family planning, both for parents and any other siblings. In these cases, even knowing what “it isn’t” is of value.
From my personal standpoint as a parent doing everything possible to understand my sons condition feels like it has value in itself.
Some might say a bias against testing is peculiar to Japan. But in my opinion there’s enough evidence that it’s relatively pervasive… particularly outside of research driven institutions.
More Common Conditions
Back during COVID I tried pitching better tools for infectious disease testing. The idea being that if we could develop something better than qPCR we could test individuals for all known pathogens and get an early warning on new unknown ones2.
If we could make this the standard of care for even some fraction of patients showing “Flu-like symptoms” we would as a bonus get an early indication of a new virus in circulation. Potentially helping us avoid pandemics in the future… or at least giving us a head start of vaccine development.
The problem here is that clinicians need to want to know what infections their patients have. And there has to be an expectation from patients that if you visit the doctor with “a bad cold” they won’t just give anti-inflammatories/fever reducers and tell you to get some rest. Rather they’ll do a test and tell you want is wrong with you.
That would require a huge cultural shift.
So I suppose my ideal would be that we would start with this goal in mind. That5 every tool at our disposal is used to determine the cause of a condition to… fully elucidate the etiology.
This applies as much to intellectual disability as it does to the common cold. First obtain what information we can, then decide how to move forward6. But where the information in and of itself has value7.
Where that information, as well as applying on an individual level, can be used to guide social policy, therapeutic development and basic research.
And The Reality
Without this information being valued, the reality is that it remains risky to develop new diagnostic tools. You end up in a Catch-22 situation, without new diagnostic tools you may not be able to identify new potential targets for therapeutic intervention. But without therapeutics clinicians won’t run the diagnostic anyway.
That makes the development of new diagnostic tools risky unless you’re developing something that’s just “slightly more accurate”, “slightly faster” or “slightly cheaper”. A broader or new diagnostic is unlikely to gain adoption in anything but small niches.
And as such many VCs will be wary to fund much tools.
Falls The Shadow
I suspect everyone is trying to do their best for patients and to improve society in general. But as I commented to one VC recently: “This feels like something where it would be of clear societal benefit. But it’s difficult to see how we map a course from where we are to broad adoption”.
For some reason I’m reminded of a popular quote from Shaw:
“The reasonable man adapts himself to the world: the unreasonable one persists in trying to adapt the world to himself. Therefore all progress depends on the unreasonable man.”8
When I request diagnostics for my son, or suggest routine meta-genomic sequencing for infections I feel I am often perceived as the "unreasonable person”. Unfortunately I suspect I have little choice but to continue to move forward with my “unreasonable” requests.
Oh No! You’re not subscribed! Perhaps you’d like to consider subscribing!
And of course, it’s not entirely correct that there are no potential therapeutic opportunities here. But in any event, these will likely rely of accurately elucidating the etiology.
The approach was to develop cheap meta-genomic sequencing platforms cost competitive with qPCR.
Assuming the diagnostic itself doesn’t have the potential for patient harm, which is the case here.
And yes, there of course is potential for abuse in large population scale sequencing projects if this information can be linked to individuals. But again, that’s not what is being suggested here.
When patients want it. And some may of course, not want it.
Again… when only one therapeutic is available, there are limited options and in a time critical situation you might do things differently. But as a general point of view… collect what information you can.
As one clinician put it: “patient experience scores increase when patients leave our care and have a name for the thing that is bothering”
I apologize for Shaw’s use of gendered language here, and suspect he meant “man” in the genetic “mankind” sense.