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New Gene Screen Flags Autism Risk in Infant Siblings

April 09, 2012

The biotechnology company IntegraGen has launched a gene test that uses a cheek swab to screen infants and toddlers for 65 genetic markers associated with autism spectrum disorder (ASD).

The test, which can be used with infants as young as 6 months, was developed for families who already have one child on the autism spectrum. It can help assess whether the infant sibling is at low, medium or very high risk for ASD. This, in turn, can flag the need for close monitoring of developmental milestones and, if appropriate, the earliest possible intervention therapies. Parents can request the ARISk Risk Assessment Test through their child’s pediatrician or other healthcare provider.

“I view this as real progress in translating genetics research from the lab to the clinic,” says Autism Speaks Chief Science Officer Geri Dawson, Ph.D. “We know that earlier interventions improve outcomes, and tools such as this will identify more children who can benefit from these treatments.”

Studies validating the test used anonymous patient samples from Autism Speaks Autism Genetic Research Exchange (AGRE), as well as those collected by Dr. Dawson’s research team when she was a professor of psychology at the University of Washington, Seattle. (Neither Dr. Dawson nor Autism Speaks has any financial interest in the test.)

The ARISk test detects small genetic changes called single nucleotide polymorphisms (SNPs) that studies have associated with autism. Although no one SNP is predictive of autism, a child carrying several of these common variants has a high risk of developing autism. Similarly, a child carrying very few or no SNPs is at low risk. The new test is also gender-specific. Of the 65 autism-associated SNPs in the screen, 8 are associated with ASD in both males and females; 29 in males only; and 28 in females only.

Until now, genetic testing for autism has been limited primarily to the identification of rare genetic changes called copy number variants (CNVs). However, autism-associated CNVs are found in only ten percent or so of children with ASD.

Many studies have demonstrated a strong genetic basis for ASD, which often runs in families. Recent studies of twins, for example, suggest that autism is heritable, though also influenced by other factors during prenatal development and birth.

IntegraGen is also developing a genetic screen for autism that would be appropriate for children from families with no prior history of ASD.

Autism Speaks is currently funding a number of studies on genetic risk factors for autism, as well as studies on gene-environment interactions that may increase or decrease risk. You can explore these and other Autism Speaks funded research using this website’s Grant Search.