IntegraGen Inc., a biotechnology company that bills itself as being "dedicated to molecular biomarker discovery," announced the launch of the ARISk risk assessment test for genetically screening for autism spectrum disorder (ASD).

The test is gender-specific and looks at 65 genetic markers associated with ASD. It is designed to assess the risk of autism in children from multiplex families—siblings of children with ASD who are 6 to 30 months of age.

The ARISk Test is lab-developed and only available through licensed medical practitioners. DNA samples are collected via a simple cheek swab and sent to a CLIA-certified, CAP-accredited lab where the genetic markers are detected via  genomic testing instruments. Results are returned to the ordering physician two to four weeks after the sample is received.

The ARISk test is a multi-SNP assessment that looks at 65 specific genetic markers, or SNPs, shown to be associated with ASD. Of the 65 SNPS, eight are associated with ASD in males and females: 29 in males only and 28 in females only. With the latest national prevalence of ASD in boys at 1:54, ASD is greater than four times more likely to occur in males.

Bernard Courtieu, chairman and CEO of IntegraGen, SA, said, “The CDC’s latest prevalence finding show the rate of ASD is 1 in 88 children, 40 percent of whom are not diagnosed until the age of 4.5 years.” He noted that the Modified Checklist for Autism in Toddlers screening tool recommended by the American Academy of Pediatrics is only valid for children 16 months or older. “Our mission is to provide a reliable tool for early assessment of a child’s risk for ASD. We are very excited to offer clinicians the ARISk Test in light of growing evidence that early assessment and intervention offer children with ASD the best chance to reach their full potential.”

Historically, genetic testing for ASD has primarily been limited to the identification of a number of specific copy number variants (CNVs), IntegraGen pointed out. Chromosome microarray tests detect the presence of rare CNVs at the chromosome level; but, autism-associated CNVs are found in approximately ten percent of children with ASD. Recently, a number of common genetic variants or SNPs have been shown to be related to the risk of ASD. While individual SNPs do not cause ASD, IntegraGen’s studies have shown that the presence of a combination of autism-associated SNPs can predict with a high degree of certainty whether that child will develop ASD, the company reports.

The ARISk Test has been developed and validated on two separate cohorts of nearly 2,000 individuals with ASD. The Autism Speaks Autism Genetic Resource Exchange database provided 545 families, including 964 siblings with ASD and 317 unaffected siblings; and the results were replicated in an independent data base including 627 families with 1,000 affected siblings and 288 unaffected siblings. IntegraGen has also initiated separate prospective clinical studies at the Cleveland Clinic and with clinicians at Cardinal Glennon Children’s Medical Center, affiliated with St. Louis University. A test for children from families with no prior history of ASD is in development.

IntegraGen SA is located in Evry, France. Its wholly-owned U.S. subsidiary is located in Cambridge, Massachusetts.