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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