Navigation Links
IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children

Cambridge, MA (April 4, 2012)-- 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 familiessiblings 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 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 show 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 in order 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) data base 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, 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 specialists 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.


Contact: Jane E. Rubinstein

Related medicine news :

1. Cell Press launches Enhanced Career Network
2. CDC Launches Graphic Anti-Smoking Campaign
3. Life-saving radio campaign launches in Burkina Faso
4. Springer launches 6 new medical review journals
5. Fogarty Institute for Innovation launches advanced endovascular training fellowship
6. Independent medical device review site Which Medical Device launches new Anaesthetics section
7. NIH launches trials to evaluate CPR and drugs after sudden cardiac arrest
8. Mutated Kras spins a molecular loop that launches pancreatic cancer
9. March of Dimes launches Prematurity Prevention Network
10. St. Jude Childrens Research Hospital launches data website for genome project
11. Facebook Launches Service to Help Prevent Suicide
Post Your Comments:
(Date:11/28/2015)... ... , ... Safe storage for contraceptive devices may not always be easy to ... and the other from Bradley Beach, New Jersey, there is an easy solution to ... to replace NuvaRings more often than necessary. As such, it affords peace of mind ...
(Date:11/27/2015)... ... November 28, 2015 , ... There is only one major question facing ... last year? , This question has not been an easy question to answer. Especially ... age and the younger workforce don’t share the same discipline around working long hours. ...
(Date:11/27/2015)... ... 27, 2015 , ... The rapid speed at which Americans ... more care is needed, especially with Alzheimer’s, dementia and other cognitive conditions becoming ... The forgotten part of this equation: 80 percent of medical care occurs in ...
(Date:11/27/2015)... ... 27, 2015 , ... Lizzie’s Lice Pickers just announced a special promotion that ... of their purchase of lice treatment product. In addition, customers will receive a complimentary ... spokesperson. “Finding lice is a sure way to ruin the holidays, so we encourage ...
(Date:11/27/2015)... , ... November 27, 2015 , ... ... of progress through sharing, the 2016 Building Better Radiology Marketing Programs ... will begin on Sunday, March 6, 2016, at Caesars Palace in Las Vegas ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... Nov. 26, 2015 Research and Markets ... the "2016 Future Horizons and Growth Strategies ... Supplier Shares, Country Segment Forecasts, Competitive Intelligence, Emerging ... --> --> This ... the Italian therapeutic drug monitoring market, including emerging ...
(Date:11/25/2015)... , Nov. 25, 2015  Amgen (NASDAQ: AMGN ... Application (BLA) with the United States ... 501, a biosimilar candidate to Humira ® (adalimumab). ... application submitted to the FDA and represents Amgen,s first ... Sean E. Harper , M.D., executive vice president of ...
(Date:11/25/2015)... Nov. 25, 2015  ARKRAY USA ... to provide evidence demonstrating the accuracy of its blood ... on Insulin Resistance, Diabetes and Cardiovascular Disease in ... the Company,s GLUCOCARD ® 01 meter and the ... requirements. The ability to accurately measure glucose levels in ...
Breaking Medicine Technology: