Getting Closer to Understanding the Genetics of Autism Spectrum Disorder

Posted by The Evidence Blog on October 19, 2012

By Diane Allingham-Hawkins, PhD, FCCMG, FACMG, Director of the Hayes Genetic Test Evaluation Program

Attending the annual scientific meeting of the Canadian College of Medical Geneticists is something I look forward to since it gives me the opportunity to network with colleagues and stay up to date on some of the latest issues in medical genetics. This year’s conference in Saskatoon, Saskatchewan is packed with scientific sessions, committee meetings, and poster and abstract sessions focused on some aspects of genetics.

The keynote address by Dr. Steve Scherer of the Hospital for Sick Children in Toronto focused on the current state of understanding of the genetics of autism spectrum disorder (ASD). According to Dr. Scherer, the combination of microarray analysis and whole-exome or whole-genome sequencing has indicated that there are hundreds of genes involved in the expression of ASD, with most genes contributing to less than 1% of cases. Current genetic and genomic technologies identify a candidate genetic cause in approximately 25% of ASD cases. Interestingly, many of the genes involved in ASD are in the same biochemical pathways as genes involved in intellectual disability, schizophrenia, and epilepsy, leading Dr. Scherer to speculate whether these conditions may in fact all be on the same disease continuum. Dr. Scherer presented preliminary data from a pilot study to perform whole-genome sequencing on 32 ASD family trios (mother, father, affected child) that suggested that candidate causative variants can be found in as many as 50% of families. A study is currently underway to sequence thousands of such families in the hope of further elucidating the genetic basis of ASD.

The conference continues through Saturday and I’ll keep you posted on other interesting developments.

Topics: Hayes Blog, Genetic Testing

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