Comments on: A Rubric for Genetic Diagnosis of Autism

By: Kristina Chew, PhD

Kristina Chew, PhD — Sat, 09 Feb 2008 01:11:48 +0000

I was quoting from a news release and cited the website of the American College of Medical Genetics. (I think you have sign up for access to the site’s content.) One hopes that the ACMG might publicize guidelines about how to use such criteria for genetic diagnosis, with full acknowledgement of the ethical issues.

By: Regan

Regan — Fri, 08 Feb 2008 22:42:25 +0000

Thanks Patrick.
I could be wrong but I think that’s a news release.
The paper itself is 8 pages long and I was interested in the specifics of the recommendations. But unfortunately, no institutional contract…so maybe it’ll show up on PubMed fulltext someday.
Schaefer, B.G, Menelsohn, N.J. (2008). Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genetics in Medicine. 10(1):4-12, January 2008.
http://www.geneticsinmedicine.org/pt/re/gim/abstract.00125817-200801000-00002.htm

By: Patrick

Patrick — Fri, 08 Feb 2008 19:00:30 +0000

Regan, I went to (and read) the Genetics in Medicine article linked in the main part of the post. Whether that is the complete paper or not, I am not sure.

By: Regan

Regan — Fri, 08 Feb 2008 07:09:42 +0000

Well, we are in the boonies so the process was not only piecemeal but somewhat random in sequence in an “oh yeah” fashion. So I think the idea of a sequential rubric to be useful.
I asked about the MRI but that was reserved for those with seizures.
Thanks for posting about this.

By: Kristina Chew, PhD

Kristina Chew, PhD — Fri, 08 Feb 2008 05:44:54 +0000

What I found interesting about this study is that, in rather piecemeal fashion, Charlie had a number of the tests listed. Indeed, the clinic where he was diagnosed (at the Minneapolis Children’s Hospital) gave us the impression that these tests were somewhat routine.

By: Regan

Regan — Fri, 08 Feb 2008 05:09:42 +0000

Patrick,
Is that your conclusion from the text of the published paper or from this press release?
It might be more clear whether the paper itself gives more specific direction. Unfortunately our University library doesn’t have a contract for this journal, otherwise I’d check.

Schaefer, B.G, Menelsohn, N.J. (2008). Genetics evaluation for the etiologic diagnosis of autism spectrum disorders. Genetics in Medicine. 10(1):4-12, January 2008.

A more methodical stepwise process would be useful.
Ours was
Speech therapy–didn’t help
Multidisciplinary screen–diagnosis ASD/MR
then EEG for Kleffner-Landau–nope
then time elapses
then test for Rett’s and Fragile X–nope
then time elapses
then test for metabolic disorders–nope

So on that basis, it was all out of order. If Eleanor had had a genuine metabolic disorder, based on the time it took to get to it, she would have been in bad shape. If she had had Rett’s or Fragile X, the original diagnosis would have been wrong.
That may have been a particular FUBAR but my understanding is that it wasn’t too out of line as the process went in our place at that time.

The only thing that seems a little odd, and maybe it’s because I don’t know the full rationale is,
“Evaluation by a professional trained in the diagnosis of autism needs to be carried out prior to genetic diagnosis, the study emphasizes.”
There’s probably a detail, but that seems to put the cart back before the horse.

By: Patrick

Patrick — Thu, 07 Feb 2008 23:31:50 +0000

Good Idea, but poor specific guidance given.

Tier 1 speaks about chromosome tests, but not which ones, and certain (but unenumerated)metabolic disorders.

Tier 2 and 3 also have similar vague language. This would not be an A+ paper if I were grading it.