Fifteen-year-old Nickolas Johnston is one of 100 youngsters chosen to have their entire genetic codes mapped in an effort to develop more targeted treatments for autism.
Nickolas, his mom Tanya and dad Greg are all waiting for the results that are expected in about six months.
Tanya Johnston said doctors thought her son would really benefit from being included in the 100 kids.
“I wanted to enrol Nickolas in the testing immediately because it can be a lifesaver in terms of not only how to treat him in future and what to expect, and most importantly, how to work with him in everyday life,” she said. “The more you can find out genetically the better off they are in the hopes of living a full and healthy life.”
The 100 tests have been donated to the Pacific Autism Family Network by Illumina Canada. A genome test creates a record of a person’s DNA. In humans, the genome contains more than three billion DNA base pairs. The donation is the equivalent of $198,000.
Johnston said her son, adopted at birth, lives with autism spectrum disorder and behaviours diagnosed as pervasive developmental disorder not otherwise specified. Like all cases of autism, the disorder manifests itself uniquely in each person.
And that’s why Johnston believes the results of the genome test may benefit her son. What it can do is identify particular genetic markers that can point to specific treatments.
“In some cases, a particular probiotic can help kids in their emotional regulation because the genome testing shows they’re missing something,” she said. “Yes, they still have autism, but they don’t have such a difficult time expressing themselves or showing their emotions.”
Dr. Suzanne Lewis is Pacific Autism’s chief medical officer and vice-president of research. She describes genome testing as “changing the current paradigm of how autism is diagnosed and treated.”
“I think it has been life changing in some cases,” she said. “I’m not trying to slam the current approach because it’s been very valuable. You can’t do the behaviour approach and diagnostic approach alone. It has to go hand-in-hand with medical and biological studies to underscore what we’re treating.”
She said some behaviour therapies for autism don’t work but no one knows why that’s the case.
But genome testing that shows genetic markers of autism can result in new therapies and treatments that target causes rather than symptoms, she said.
Lewis told the story of one child with autism who had a similar kind of genetic testing called an exome that maps a much smaller part of a person’s DNA. But the test was still able to identify the underlying genetic reason for the child’s behaviour, which was treated with medication.
“It made an incredible difference for that child,” she said. “So it’s going from the current situation where it’s largely behaviour interventions to move to sequencing and identifying underlying causes or biological factors that are potentially treatable.”
The cost of a whole genome test per person is about $6,500.
Lewis said current research has identified more than 131 gene variants linked to autism.
“Autism … is highly variable in each individual because it is due to many different causes,” she said. “It is not necessarily as simple as a single gene but genes that might work with other pathways that affect how the brain functions.”
Illumina Canada provided the 100 genome tests, she said, to show public-funding bodies that diagnostic testing shouldn’t be limited to the most severe cases of autism.
“This should be a core part of the diagnostic process of autism,” she said.
Lewis said it’s a good question about who owns the information once a person’s genome is decoded.
“The sequencing is owned by the patients in my opinion,” she said.
The authority, she said, will fund some exome testing but only if the request is in writing. In many cases funding has been turned down because the authority doesn’t think it will help treating a child with autism.
Genome testing isn’t covered by the authority at all, she said.
The provincial Ministry of Health said it was working on its response explaining its policy of funding genetic testing for autism.
Pacific Autism is holding its big fundraiser Nov. 29 at the JW Marriott Hotel Parq. About 1,000 people are expected to attend. Tickets are available at $250 each, with the net proceeds going to the group.