ARISk Test: Genetic Autism Screening Tool
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Published: 2012-04-05 - Updated: 2022-04-05
Author: IntegraGen | Contact: integragen.com
Peer-Reviewed Publication: N/A
Library of Related Papers: Autism Information Publications
Synopsis: A gender-specific genetic screening test that looks at genetic markers associated with Autism Spectrum Disorder. The ARISk Test is a multi-SNP (Single Nucleotide Polymorphism), gender-specific, genetic screening test 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. The ARISk Test has been developed and validated on two separate cohorts of almost 2,000 individuals with ASD. The Autism Speaks Autism Genetic Resource Exchange (AGRE) database provided 545 families, including 964 siblings with ASD and 317 unaffected siblings, and the results were replicated in an independent database including 627 families with 1,000 affected siblings and 288 unaffected siblings.
IntegraGen, Inc., a biotechnology company dedicated to molecular biomarker discovery, today announced the launch of the ARISk Risk Assessment Test, a gender-specific, genetic screening test that looks at 65 genetic markers associated with Autism Spectrum Disorder (ASD). The test 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. According to the Centers for Disease Control (CDC), the average age of diagnosis for ASD is 4.0 years, despite conclusive evidence that early intervention can significantly improve IQ scores, language and social skills, and ensure the best possible outcomes.
The announcement was made by Dr. Bernard Courtieu, chairman and chief executive officer of IntegraGen, SA, who said the ARISk Test will only be available through medical professionals including pediatricians, developmental pediatricians, child neurologists and autism clinicians.
"The CDC's latest prevalence finding shows the rate of ASD is 1 in 88 children, 40 percent of whom are not diagnosed until the age of 4.5 years," says Mr. Courtieu, noting that the Modified Checklist for Autism in Toddlers (M-CHAT) screening tool recommended by the American Academy of Pediatrics is only valid for children at 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."
"We know genetics definitely plays a role, that ASD runs in families and that early diagnosis and intervention are vital to achieve the best outcomes," says autism expert Antonio Hardan, MD, a member of IntegraGen's advisory board. "As a clinician, identifying risks for autism is important since siblings have a higher chance to develop the disorder in comparison to the general population."
The ARISk Test is a multi-SNP (Single Nucleotide Polymorphism), gender-specific, genetic screening test 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.
Many studies have demonstrated a strong genetic basis for ASD, which often runs in families. The average recurrence risk for siblings of children with ASD reaches 18.7% (25.9% for males and 9.5% for females). Recent studies of fraternal twins indicate that autism is highly inheritable, and studies which identified numerous genetic markers associated with autism demonstrate a complex inheritance pattern.
Until now, genetic testing for ASD has primarily been limited to the identification of a number of specific copy number variants (CNVs). Chromosome microarray (CMA) 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 rigorous 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 ARISk Test has been developed and validated on two separate cohorts of almost 2,000 individuals with ASD. The Autism Speaks Autism Genetic Resource Exchange (AGRE) database provided 545 families, including 964 siblings with ASD and 317 unaffected siblings, and the results were replicated in an independent database 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, which is affiliated with St. Louis University. A test for children from families with no prior history of ASD is in development.
The ARISk Test is a laboratory developed test that is 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 state-of-the-art genomic testing instruments. Results are returned to the ordering physician two- to four-weeks after the sample is received. Children who are identified as having a significantly higher risk of developing autism have a two to four-fold increased risk of autism compared to the average sibling of a child with autism. It is recommended that children who are identified as having a higher risk of autism be referred to an autism specialist for a diagnostic work-up and, if diagnosed, early behavioral intervention.
Since the test does not rule out ASD for children who are identified as having no change in risk or a decreased risk of autism, children who demonstrate signs of ASD should also be screened using the M-CHAT, a screening tool based on behavioral observation and designed to identify children who are candidates for referral to an autism specialist for diagnostic evaluation. The American Academy of Pediatrics recommends that all children be screened at 18 and 24 months of age.
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