A Better Early Blood Test For Autism
The gene signature approach, which Boston Children's Hospital has licensed exclusively to SynapDx ( Southborough, Mass.), can potentially diagnose autism far more often than the genetic tests currently available. Those tests look for variety of autism-related mutations—from small "spelling" changes to lost or extra copies of a gene or genes (known as copy number variants) to wholesale chromosome abnormalities—but together, the known mutations account for fewer than 20 percent of autism cases.
"It's clear that no single mutation or even a single pathway is responsible for all cases," says Kohane. "By looking at this 55-gene signature, which can capture disruptions in multiple pathways at once, we can say with about 70 percent accuracy, 'this child does not have autism,' or 'this child could be at risk,' putting him at the head of the queue for early intervention and evaluation. And we can do it relatively inexpensively and quickly."
Previous gene-expression studies on blood samples have been limited by study size and by the challenge of obtaining well-matched control groups, Kohane notes.
The 55 genes whose expression was altered also suggest more than one path to what we know as autism. Based on their genetic signatures, subjects with ASDs clustered into four subgroups marked by changes in different biological pathways:
- Synaptic pathways, specifically long-term potentiation pathways (essential for memory and learning) and neurotrophic pathways (signaling neurons to survive, develop and grow)
- Immune/inflammatory pathways
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