New gene testing methods ‘could aid understanding of autism’

Children with suspected autism spectrum disorder (ASD) could benefit from the use of newer genetic testing technologies, according to a study from Canada.

A team from the Hospital for Sick Children in Toronto performed chromosomal microarray analysis and whole-exome sequencing in a group of 258 unrelated children with ASD to determine the molecular diagnostic yield.

Among the children who underwent both forms of testing, the estimated proportion with an identifiable genetic cause was 15.8 percent. Moreover, the clinical yield for genetic testing was much higher – 37.5 percent – in children with ASD who had more complex clinical presentations based on physical examination.

The researchers concluded: "If replicated in additional populations, these findings may inform appropriate selection of molecular diagnostic testing for children affected by ASD."

According to the report, this is a positive trend, as genetic testing of children with ASD seems likely to continue to increase in coming years.

In a survey of parental interest in ASD genetic testing, 80 percent of parents said they would want a sibling younger than two years tested to identify ASD-risk mutations, even if the test could not confirm or rule out a diagnosis.