Blood test could diagnose autism spectrum disorders at age 3

A blood test under development could indicate whether a toddler has an elevated risk of developing autism spectrum disorder. That could lead to earlier intervention.

SynapDx licensed the test from Boston Children’s Hospital last year. It has raised $6 million from North Bridge Venture Partners and General Catalyst Partners toward pivotal studies. Beginning next year, a study of 600 children will be used to validate performance characteristics in children at risk for ASD. Boston Children’s Hospital has already begun recruiting.

In an interview with MedCity News, Stan Lapidus, SynapDx CEO, said the test would be administered as early as 36 months by pediatricians, compared with the current average age of 4 1/2 years old. He emphasized that it’s not a broad screening tool, and would be used for children exhibiting symptoms such as avoiding eye contact and are nonverbal.

“I think we’re at the beginning of a real revolution in the diagnosis of neurological disorders made with an RNA expression analysis that will really help diagnose neuropsychiatric disorders sooner. An early diagnosis makes it more likely that treatment will lead to better outcomes.”


The goal of the suburban Boston CLIA laboratory’s diagnostic will be to distinguish patients with ASD  from patients with other developmental disorders using gene expression.

Among other companies with autism diagnostics are Lineagen, a Utah-based company that recently formed a partnership with the Center for Autism and Related Disorders, and French company Integragen.

Much is still being learned about autism and disagreements abound. One reason it’s been a controversial area is because symptoms cover such a broad area and there are many differences of opinion of what the limits of the condition are. The American Psychological Association recently voted to drop its definition of Asperger’s syndrome and include it among the symptoms of autism spectrum disorder. That follows debate on whether the condition was overdiagnosed. This was one of several changes to the association’s manual that followed a seven-year debate that split the mental health community over whether the changes will spur overdiagnosis of some disorders and limit treatment for others.

It will be interesting to see how this test fits into the autism spectrum disorder landscape when it comes to market.

[Photo from Flickr user: Wheeler Cowperthwaite]

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