Researchers close in on faster ways to diagnose disorder
UNLOCKING AUTISM
A Canadian- led research team has identified several more genetic mutations that appear to be linked to autism spectrum disorder.
The results offer hope for new, faster ways to diagnose autism spectrum disorder, or ASD.
The international team looked at the entire DNA code of affected individuals, a method called whole genome sequencing. The researchers believe they are the first to take such an in- depth look at genetic alterations associated with ASD.
“From diagnosis to treatment to prevention, whole genome sequencing efforts like these hold the potential to fundamentally transform the future of medical care for people with autism,” said Dr. Rob Ring, chief scientific officer at Autism Speaks and a study co- author.
The disorder, which affects about one in every 88 children in North America, encompasses a range of developmental conditions that can cause significant social interaction, communication and behavioural disabilities.
Because ASD can come in many guises and be such a complex condition, getting a definitive diagnosis can take months, even years, as the child is studied by multiple specialists, said Stephen Scherer, the principal research investigator and director for the Centre for Applied Genomics at Toronto’s Hospital for Sick Children.
Whole genome sequencing could speed up diagnosis by unearthing genetic clues that might help explain ASD- like behaviours in a child.
“That’s critical in autism,” said Scherer. “You want to get a formal diagnosis as quickly as possible so you can enrol the kids in the proper intervention programs.”
Early treatment can help a child overcome deficits in language and social skills.
“We can deliver this test in essentially a week and we can process dozens of samples at the same time,” Scherer said.
Vancouver mother Abbe Gates, whose 21- year- old son Lucas has highfunctioning autism, said it’s good news if a diagnosis can be made quickly, as parents could begin to help their child overcome their challenges sooner.
She said her son wasn’t diagnosed until age 5, after his kindergarten teacher suggested Lucas have an assessment done.
“He had zero social skills, was isolated and had tantrum after tantrum. It was a daily struggle. Doctors kept telling us he was speech delayed and as a boy he was just developing slower,” she said. “If we had known earlier, before five years old, I’d definitely had behavioural intervention earlier.”
The cost of whole genome sequencing has dropped dramatically since a human’s full complement of DNA was first analyzed in 2001 at a price of $ 100 million. But it remains expensive, at about $ 5,000 a person. The goal of researchers is to get testing below $ 1,000.
The cost of the testing should be covered under the Medical Services Plan since many families don’t have an extra $ 1,000 to pay for it, said Michael Lewis, president of the Autism Society of B. C.
His 19- year- old son was diagnosed with autism 16 years ago.
“The diagnostic process today is better than what it was 16 years ago, but this ( genetic testing) would be an improvement. The earlier one can undertake a diagnosis, the better,” he said.
The researchers have begun working on the next phase, a five- year international collaboration that will involve sequencing the entire DNA of 10,000 families around the world affected by autism, including 1,000 families in Canada.
The ultimate goal is to find all the genes and all the genetic variants within those genes that underpin ASD, said Scherer.
The $ 1- million pilot study, published online Thursday in the American Journal of Human Genetics, involved whole genome sequencing of 32 Canadians with ASD, their parents, and in some cases siblings and other relatives.