Miles publishes review of new uses for existing genetic tests

Thompson Center researcher, geneticist and pediatrician Dr. Judith Miles recently published an invited editorial in the Journal of the American Medical Association reviewing a study of molecular diagnostic tests in children with complex autism.

The techniques used in the study, chromosomal microarray analysis and whole-exome sequencing, allowed researchers at the University of Toronto to attribute complex autism symptoms of participating children with a known genetic mutation in 37.4 percent of cases. Less severe cases of autism, classified as “essential” autism, were only linked to a genetic mutation in 4.2 percent of cases.

Miles said the use of these genetic tests in a new application to autism diagnosis may be as much as seven times more informative than traditional chromosomal testing.

“Foremost, the data indicates that physicians responsible for diagnosing children with autism spectrum disorder should arrange genetic evaluations using techniques that have the best chance of determining a conclusive diagnosis,” Miles said in the editorial. “It is undeniable that precise diagnoses pave the way to better medical care, improved surveillance, better functional outcomes and informed genetic counseling, often with the possibility of prenatal or preimplantation diagnosis.