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Thursday, September 13, 2012

Australian Scientists Have Developed A Genetic Test For Autism

News broke yesterday of a new genetic test that can identify potential risk for autism. Researchers managed to identify 237 genetic markers in 146 genes that either contribute to or protect an individual from developing autism.

The risk markers increase the score on the genetic test, while the protective markers decrease the score. The higher the overall score, the higher the individual risk for autism.

So far, the test had a 70% accuracy in people of European descent, and scientists are still developing the test for other ethnic groupings. It's not perfect, and it's not for everyone, but it's a step forward and a big one.

When you're a parent staring at your young child and dealing with that horrible, nagging feeling in the pit of your stomach that your kid is not progressing the way everyone else seems to be, a test like this can be of enormous help.

I remember very clearly sitting with a table full of autism Moms as this year's BlogHer conference, sharing breakfast and sharing our stories. We all had so much in common, but the one thing that we all so clearly remembered was finally getting that diagnosis, and how completely and utterly relieved we all were when we got it. As hard as it is to hear that your kid is autistic, it's even harder not knowing, and not knowing how to progress or work with him or move forward with him. Once the diagnosis was in hand, we knew. We knew and we could work with that.

And we did work with that, and will continue to work with that for as long as it takes to fill in all the puzzle pieces. This test makes that puzzle just one piece closer to being solved.

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