Background: The diagnosis of Autism Spectrum Disorder (ASD) is currently based on clinical interviews. Doctors lack laboratory tests or other biomarkers to help support a diagnosis. Autism has a strong genetic component, but knowing which genetic variations contribute to or protect against autism is a major challenge for diagnosis.

What’s new: Scientists have developed a diagnostic test by mapping genetic variations into cellular pathways that might be affected in autism. A specific combination of 237 common genetic variations, called single nucleotide polymorphisms (SNPs), can predict an ASD diagnosis with at least 71 to 85 percent accuracy, according to a new study published 11 September in Molecular Psychiatry. The predictive accuracy, however, is only strong in those genetically similar to Central Europeans. The same SNPs predicted ASD with only 57 percent accuracy in a genetically dissimilar Chinese population. According to the authors, at least some of the genes harboring autism-linked SNPs are expressed in various brain regions implicated in ASD, and those genes are also important for cellular processes required for proper neuron functioning.

Why it’s important: An SNP profile may eventually become an important biomarker in the diagnosis of ASD. SNP testing during early infancy could allow detection of ASD before symptoms manifest, allowing for earlier therapeutic intervention, which may increase the success rate of therapy.

What are the Genetic Risk Factors for Autism?

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