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Monday, September 6, 2010

DNA Testing and the Future of Autism

I was going to post this a lot sooner.  Like, early June.  However, I got caught up in three of my poems being accepted into the Perspectives anthology, and painting artwork.  So now I finish this. 
I have recently become aware of several news articles concerning new findings on autism genetics on this study just released. The Globe and Mail article, while short, does address a few key points.

The first is that they have not found specific genes for autism, but rather they speculate that they have found that out of their 996 ASD individuals had a higher rate of copy number variants. However, the genes and segments of DNA affected was different for each individual, and as study co-author Peter Szatmari says they have found "not a cause... but a profile of genes, a pattern of susceptibility".

Second to point out is that the rate of this pattern was found in 10% of their case studies, meaning that they might be able to predict autism in 10% of the autistic population, if the raw data is correct. However, current data is still unclear as to apply this to diagnostic methods, so they caution against any marketing schemes out there.

Both the study's scientists and the articles' author addresses the potential fear that current prenatal diagnostic tests could be used for family planning and abortion, a topic which I'm thankful that they covered. They also stressed that the genetic testing is not to eliminate autism, but to provide earlier intervention and supports.

Personally, I'm not entirely sure that developing a prenatal test is such a good idea, even assuming that they are able to predict autism in more than 10% of the autism population. Of course, I'm not sure the details involved in a prenatal test, but it seems to me that it would be more cost-efficient not to have a prenatal test and have a diagnostic test if a child is suspected of being autistic.

I mean, think about it, with the potential fears of abortion aside, is it really feasible to prenatal test every child?   A bit more reasonable is to test in families with a family history of autism, or even to test if a child is showing autistic characteristics.

There is a strong emphasis on early "treatments", "interventions", or even just putting supports and accommodations in place.  However, I think that the emphasis has gotten too strong.  While certainly a child may do better the earlier diagnosed, it is not a clear-cut prognosis.  It is not the end of a child's future if a child is diagnosed at age 3, and earlier diagnosis does not mean that a child will do better.  It depends on whether a child has the supports she needs as she grows and develops on her own individual development path, and the guidance of her caregivers. 

So what I'm trying to say is that I'm not against early testing.  I just would like to caution about how early testing is used and what it means for a child.  And of course, before filling a child's day full with skill-building, allow a kid to be a kid.


  1. It would be nice if we could worry and work for ways to help autistic people living today rather than spend any time worry about hypothetical genocide.

  2. I would agree that we should be doing our best to educate children and doing all we can to support all autistic adults achieve their potential, and think the vast majority of resources should be toward these ends. I think that genocide is not so hypothetical, when you consider that 90% of Down fetuses are aborted. If they could find a way to reliably detect autism prenatally, they would do it.

  3. I agree that the idea of pre-natal testing as a solution for early diagnosis doesn't sit well. For one, pre-natal testing includes it's own risks. The process is (or, at least, it was eight years ago when my youngest was in utero) potentially fatal to the infant, though the chances of this are relatively low. Furthermore, such a test is expensive and I doubt it's covered by all insurance companies, at least not without specific cause.

    A better method, in my opinion, would be to train pediatricians and family doctors to better recognize signs that a child may need extra attention. This might not enable them to diagnosis the child, but if they were equipped with the knowledge to provide recommendations for specialists, then families would be better able to get the information and assistance they need to improve their child's quality of life.


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