CAMBRIDGE, Mass.--(BUSINESS WIRE)--IntegraGen, a leading player in the development and marketing of molecular diagnostic testing in autism and oncology, today announced that Frontiers in Genetics has published the results of a study that reports on the association of common genetic variants with autism spectrum disorder (ASD). The study, entitled “A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism” details the use of a combined approach using genome-wide association studies and functional genomics to develop a gender-based genetic scoring model based on common variants identified as being associated with autism.
The research, which was based on results obtained from genome-wide association studies utilizing data from the Autism Genetic Resource Exchange (AGRE) and a separate independent replication sample, included nearly 2,000 individuals diagnosed with autism and 600 unaffected siblings. The results of the study identified the role of common variants, also known as single-nucleotide polymorphisms (SNPs), in multiplex autism families. The study was a result of a collaborative research effort between investigators at IntegraGen and external experts in the field of autism.
"Delays in the identification of children at risk of autism limit the opportunity for early assessment and the potential diagnosis of autism spectrum disorder and associated access to early behavioral intervention which have been shown to significantly improve IQ scores, language and social skills. This study supports the use of a gender-based genetic scoring model, based on common variants, to earlier identify children at increased risk of autism” commented David Cohen, M.D., Ph.D., Department of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris (AP-HP) and co-author the study.
“The results of this study builds on data IntegraGen has previously published that identified gender-specific single-nucleotide polymorphisms which predict the risk of autism in children who have an older sibling diagnosed with ASD,” stated Bernard Courtieu, IntegraGen’s President and CEO. “These findings contribute to the scientific evidence supporting the clinical utility of the ARISk Test towards identifying children who are at increased risk of autism, leading to an earlier diagnosis, earlier intervention, and better prognosis.”
The Centers for Disease Control (CDC) has reported that autism spectrum disorder affects 1 in 88 children in the United States with the prevalence being five times higher in boys than girls. The CDC also reports that, on average, children do not receive an ASD diagnosis until they are more than 4 years of age.
ABOUT THE ARISK® TEST:
The ARISk® Test is a genetic test that analyzes the likelihood that a child will develop autism. IntegraGen has recently launched the ARISk2 Test which expands the clinical utility of the test to now include children who have signs of developmental delay or autism in addition to children who have an older sibling diagnosed with an autism spectrum disorder. 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 laboratory where the genetic markers are detected via state-of-the-art genomic testing instruments. 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.
Founded in 2000, IntegraGen (ALINT.PA) is a biotechnology company focused on the development and commercialization of molecular diagnostic tests in the fields of autism and oncology. IntegraGen’s mission is to translate molecular research into clinical practice through the identification of novel genetic biomarkers and the subsequent development of molecular diagnostic tests which allow clinicians to better manage the clinical care of their patients. IntegraGen is also a leader in delivering expert genomic service solutions to academic researchers and life sciences companies as a result of its scientific knowledge and technological expertise related to cutting edge genomic platforms and bioinformatics.
For more information about the ARISk Test visit www.arisktest.com.
For more information on IntegraGen visit www.integragen.com.