Monday, March 15, 2010

Genetic Testing for Autism Gets Better: The Chromosomal Microarray Analysis

US News and World Report is running this news story on a more effective genetic test for Autism. The report tells of the three genetic tests that were run:  G-banded karyotype testing, Fragile-X testing, and Chromosomal Microarray Analysis (CMA).  In the tests preformed on 933 people between 13 months and 22 years, the two earlier staples of genetic testing performed at 2 percent for G-banded karyotype testing and 0.5 percent for Fragile-X testing.  But the new CMA test performed at slightly more than 7 percent in it's matching of genetic diagnosis to behavioral diagnosis. 

This means that of all those tested, the new test was able to conclusively link a genetic, chromosomal aberration to Autism.  This is huge for genetic testing, as it increases reliability for the genetic test method more than three times.  But it's still a low number.  Very low number, making genetic testing still too costly and inaccurate overall when diagnosing autism.

So why is this news so important?  Because it shows that we as a society are coming closer to understanding Autism and it's genetic markers.  As such, we are starting to understand Autism more, and that means working on ways to help manage it in more severe forms. 

But what about those that cannot be genetically identified?  Well, again, it all comes down to how Autism is diagnosed versus a relation to the conditions in the nervous system that cause Autism's symptoms.  As I have mentioned before in a number of other Autism posts, the Autism Spectrum is huge, and is used to encompass several specific symptoms.  These can be sensitivity to sensory stimuli, lack of eye contact, lack of social skills, enlarged or denser brains, etc.

And as geneticists have pointed out, there are a number of genes (up to 22 now), of which any one can cause some or all of these symptoms.  And the more genes that are present, the more pronounced the symptoms.  And what's really interesting is disorders like Fragile-X, which causes run-away stimuli in the neuron synapse firing, causes the same or similar symptoms as the denser brain of the Autistic.  So how do you tell them apart, behaviorally?  You can't.  It requires genetic markers, such as standard facial compositions of those with Fragile-X, to tell them apart. 

And, of course, it all really comes down to how to help those with any disorder like Autism, and that's education.  Making education available to those with Autism to help them function in this world with their disorder (and not fight it) is the best possible option.  Part of that is through behavioral therapy, part of that is through family (particularly parent) counseling to help everyone become part of the educational process.

So I applaud those working on the genetic testing for Autism, to help locate those children who are in need at a very early age and prepare parents for their responsibilities early.  And perhaps, just perhaps, insurance companies across the country will understand that Autism is something that needs to be covered, at least to the point of diagnosis. 

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