Is Better Genetic Diagnosis of Autism Possible?

Posted by The Evidence Blog on June 27, 2014

It is now estimated that autism spectrum disorders (ASD) affect an astonishing 1 in 68 children. Currently, most children with ASD are not diagnosed until after the age of 4, largely due to the complex and variable nature of the disorder and its clinical presentation. You can read a recent review of diagnosis and treatment of ASD here. It is widely believed that earlier intervention leads to better patient outcomes; consequently, reliable methods to accurately diagnose ASD in younger children are desired.

Approximately 20% of ASD is due to genetic factors. The genetics of ASD are complex, however, with more than 100 different genes reported to be associated with the condition, and variants in multiple genes often required to cause symptoms. Recently, a team of researchers at Toronto’s The Hospital for Sick Children announced that they had stumbled upon a core group of genes required for human cognition. The researchers hope to translate that knowledge into a tool that can be used by clinicians to aid diagnosis of ASD. According to the lead author, Dr. Steve Scherer, development of the tool will happen within the next year. There is already reported to be commercial interest in the tool.

While development of an accurate diagnostic tool for ASD would be an important and very welcome development to both families and researchers, caution is needed. In order to be sure that the tool does what it is intended to do – diagnosis of very young children with ASD – prospective studies are needed to show that those children predicted to be at high risk are actually affected while those predicted to be at low risk are not. In addition, given that the majority of ASD does not appear to be caused by genetic factors, the overall impact of such a tool on the diagnostic landscape of ASD needs to be evaluated. Finally, studies are needed to demonstrate that earlier intervention leads to improved outcomes in those children identified at high risk for ASD using the tool.
This is an exciting time in ASD research, and Hayes will continue to watch this story unfold with interest.

Topics: Hayes Blog

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