Sunday, August 31, 2014

Clinical Practice Guidelines, Autism, and Ordering of Tests

I just returned recently from giving a presentation to the Institute of Medicine (IOM) on the topic of emerging technology in medical education (more specifically, on graduate and continuing education in the health professions).  The overall theme of the IOM Roundtable discussion was to examine practical approaches to improving genetics education in these groups.  I am a primary care physician, and by no means an expert in genetics or genomics.  My involvement in the meeting centered around using emerging technology within education of health care professionals. 

It was a fantastic one-day conference, and I had the opportunity to meet some very wonderful people; not only fellow educators but also true experts in the field of genetics and genomics education.  The discussions included how genetic providers can best partner with primary care physicians on ordering of tests that will help patients.  We also talked about primary care physicians referring appropriate patients to geneticists for further evaluation.  One of my take home points was that I should be considering genetic conditions more often than I am.  Consider that objective achieved, IOM!

So I recently received this advertisement card in the mail, by Quest Diagnostics.  On one side “Their future is in your hands.”  On the other, a pitch to use the ClariSure brand of chromosomal microarray analysis. 

I have never ordered one of these tests.  I probably need to refer more patients to a genetics clinic, for sure, and not just for patients in whom I am entertaining a diagnosis of autism.

But this phrase right on the pretty glossy paper caught my attention: “Chromosomal Microarray Analysis is recommended as a first tier test for autism spectrum disorders and developmental delay by ACMG” (the American College of Medical Genetics).  Wow, I thought!  That could be considered a pretty bold statement.  Remember, this was sent to me, a primary care doctor, who sees patients with autism, screens pediatric patients at well child visits for it, and refers where appropriate.  The statement above does NOT say “for diagnosis”, “when/if referring to genetics”, or anything like that.  It says “recommended as a first tier test for autism …”.  How should a pediatrician reading this pamphlet sent directly to them interpret that?

I pulled the ACMG guidelines, entitled “Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions”. In that guideline, Table 4 is titled the following: “Template for the clinical genetic diagnostic evaluation of autism spectrum disorder”.  Indeed, chromosomal microarray is listed as a first-tier test.  But let’s go back to the title of Table 4 and read it more carefully: “… for the clinical genetic diagnostic evaluation of autism spectrum disorder”.  It does NOT say “for pediatricians and primary care providers” anywhere in this table.  I don’t really know too many primary care pediatricians who are ordering this test, but maybe I am insulated.  I am not a clinical geneticist.  So why is this pamphlet being sent to me, a pediatrician?

When I am not sure about something, I like to “go to the literature”.  So I looked for guidelines or a policy by the group with which I affiliate as a pediatrician: the American Academy of Pediatrics (AAP).  I do not recall the AAP recommending chromosomal microarray testing the last time I looked.  The AAP does indeed recommend Screening for Autism, in a guideline from 2007: “Identification and evaluation of children with autism spectrum disorders”, with a simplified algorithm found here, on page 2).  Basically, routine screening in EVERY PATIENT at 18 months for autism spectrum disorders is what pediatricians should be doing.  There is even a code for screening (it’s 96110, for anyone interested!)  I know this algorithm well. 

We are actively working to improve screening for autism in the state of Indiana, and colleagues at my institution have some preliminary data that demonstrate a lowering of the mean age of diagnosis of autism in certain communities by quite a bit (the lower the age, the earlier the patient can be referred to an autism specialist).  Maybe in the future, ordering of a chromosomal microarray analysis will be part of a general pediatrician’s armamentarium, but I’m not sure it is right now.

Is it just me, or should I be bothered by this pamphlet which I received from Quest Diagnostics?  Again, the wording on the pamphlet sent to me, a primary care doctor, at my home address, recommends “chromosomal microarray analysis is recommended as a first-tier test …”.  I struggle with the wording, which omits “by clinical genetics”.  I am not saying that geneticists should not order this test; they probably should.  I am saying that sending this pamphlet to pediatricians, who see scores of patients who may have positive screening tests for autism, seems a bit bold.

Pediatricians should refer patients they are concerned may have autism spectrum disorders to a specialist.  Their concern may arise from a gestalt, or from a formal screening test, such as the M-CHAT-Revised. If this screening test (which costs only time to complete) is positive, a referral to a specialist and a community early intervention service resource is indicated.  One such specialist is a clinical geneticist; another might be a behavioral/developmental pediatrician or a child neurologist.  In addition, each state has its own individual process for early intervention service referral.

People wonder why the costs of health care are so ridiculously high.  I agree with this sentiment: costs are too high!  I do believe that we should be referring patients and interacting more with our genetics colleagues about patients with whom we might be considering certain diagnoses, such as autism spectrum disorders.  But I wonder if general pediatricians are the right audience for such an advertisement for a specific diagnostic test.  I certainly can see this pamphlet sent to the offices of clinical geneticists.

I think the point of the IOM meeting recently was to improve the education of primary care physicians.  IOM: consider your goal achieved, with this primary care doc (me), at least.  I wonder how many of my primary care colleagues are now ordering this chromosomal microarray test in patients who have a positive (abnormal) screening test, versus just referring.  Something tells me that chromosomal microarray analysis is not a cheap test either.  But that’s a discussion for a future blog.

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