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Autism Genetic Resource Exchange
The Autism Genetic Research Exchange (AGRE) was initiated by Cure Autism Now (CAN) in 1997 to advance research into how genetics play a role in the development of autism spectrum disorders (ASDs).1 The program is currently funded by the National Institute of Mental Health (NIMH) and Autism Speaks, which merged with CAN in 2006.1 The project was created by parents, scientists, and clinicians who “felt that in order to facilitate more rapid progress in the identification of the genetic underpinnings of ASD, they needed to collect critical phenotypic and genetic information from families with autism and make these data readily available to the scientific community.”2 This colossal undertaking has led to the creation of one of the world’s largest shared resources for the study of autism and other developmental disorders.1 As of July 2011, the AGRE boasted a collection of data on 1,354 pedigreed families and 2,695 individuals.3 The Autism Genetic Research Exchange’s data bank has led to the discovery of specific genes associated with the onset of ASDs,4 has served as a resource for hundreds of published studies from various reputable scientific and medical journals,5 and has led to the development of new diagnostic tests for autism spectrum disorders.6-7
Methods of the Autism Genetic Resource Exchange
Researchers first confirmed ASD as an inheritable disorder when Folstein and Rutter conducted a study on sets of 21 twins in 1977.8 Since this discovery, researchers have been longing to determine how and which genes cause the onset of autism. The establishment of the AGRE program allows qualified researchers from around the world to view various forms of collected data and biomaterials for studies concerning genetics and developmental disorders. Information from participants is collected via questionnaires before the AGRE project sends a phlebotomist or psychometrician to collect phenotypic, genotypic, and demographic data from participants.1 Recently, Autism Speaks announced a collaboration between the Autism Genetic Resource Exchange and Prometheus Research that “will provide the research community with access to extensive clinical data, tissue, and biospecimens from over 15,000 individuals with autism spectrum disorder (ASD) and their relatives from around the world.”9 The partnership will certify that researchers will attain maximum accessibility to Autism Speaks’ signature resources.9 Through their emphasis on collaboration and data sharing the AGRE program has “created a paradigm shift among scientists who weren’t always motivated to share their data or their findings and influenced larger collaborative programs such as Autism Speaks’ Autism Genome Project (AGP), an Autism Speaks-supported international consortium of 120 scientists from 50 institutions world-wide that pools resources for their genetic analyses.”2 These various types of data and biomaterials have served as a valuable resource for researchers for over a decade.
Accomplishments of the Autism Genetic Resource Exchange
In 2008, a study published in The New England Journal of Medicine used samples from AGRE to identify five children “with autism in four independent families [that] carried de novo deletions” on a region of chromosome 16p11.2.10 These results not only produced greater interest in that particular region, but also sparked a great scientific interest in copy number variations (CNVs) and de novo mutations in autism.2 Data collected by AGRE was used in a 2010 study that was published in the journal Nature as part of Phase 2 of the Autism Genome Project. The study implicated “many novel ASD genes like SHANK2, SYNGAP1, DLGAP2, and the X-Linked DDX53-PTCHD1 locus.”11 Identifying susceptibility genes for autism is an important milestone towards determining how genetics play a role in the development of autism spectrum disorder.
The information collected by the AGRE Consortium is leading to greater innovations in the ways physicians can identify the genetic markers for autism, which can result in earlier intervention. Two recent advancements in autism diagnosis have utilized data from the AGRE program to test the efficacy of their products. Although these diagnostic tests share a common goal, they employ very different mediums to achieve an early and accurate diagnosis for the autism. The ARISK Risk Assessment test, the more sophisticated of the two methods, is to be used specifically for high-risk siblings of individuals with autism. The ARISk Risk Assessment Test is “a gene test that uses a cheek swab to screen infants and toddlers for 65 genetic markers associated with autism spectrum disorder.”12 The test, which was developed by IntegraGen,13 can be used to detect single nucleotide polymorphisms (SNPs), which have been associated with a high risk of developing autism, in infants as young as 6 months of age.12 Before the introduction of this test, genetic testing for ASD had “primarily been limited to the identification of a number of specific copy number variants (CNVS)….but, autism-associated CNVS are only found in approximately 10% percent of children with ASD.”6 Of the 65 SNPs associated with the risk of autism, 8 are associated with ASD in both males and females, while 29 are present in males only and 28 in females only.6 Unfortunately, this test is only accurate for siblings of individuals already diagnosed with ASD. However, IntegraGen is also working to develop a genetic screen for autism that is effective for children who have no prior family history of ASD.12
Another newly developed diagnostic test for autism, created by Harvard Medical Professor Dennis Wall, can detect autism with nearly 100 percent accuracy, and “could reduce the time for autism diagnosis by nearly 95 percent, from hours to minutes, and could be easily integrated into routine child screening practices to enable a dramatic increase in reach to the population at risk.”14 Normally, parents concerned with their child’s development must make an appointment with a specialist and fill out lengthy forms while their child undergoes a series of clinical evaluations.15 The current standard for autism evaluation is conducting the Autism Diagnostic Interview, Revised (ADI-R), which is a 93-question questionnaire, and/or the Autism Diagnostic Observation Schedule (ADOS), which measures several behaviors in children.14 Wall and his team “turned to ‘machine-learning’ software—a type of artificial intelligence technology that can discern patterns in data in a way that allows it to mimic the decisions of a trained expert.”16 Wall’s test consists of 7 survey questions accompanied with a home-video of your child, all of which can be conducted and evaluated online, accurately making a diagnosis in a matter of minutes instead of hours.7 To arrive at the magic number of 7, the team “studied results of the ADI-R from the Autism Genetic Research Exchange for more than 800 individuals diagnosed with autism to find redundancies across the exam. They found that only seven questions were sufficient to diagnose autism with nearly 100 percent accuracy, equivalent to the full 93-question exam.”14 The test was also validated using information on nearly 2,000 children from the Simons Simplex Collection (SSC) and 424 individuals from the Autism Consortium.16 This trial yielded similar results, as “the software is in near-perfect agreement with clinicians on positive diagnoses.”16 The hope is that the analysis of the survey and accompanying home-video will not only cut down on the time it normally takes to wait for an appointment from a qualified physician, but also lower the average age of autism diagnosis, which is currently 4 years of age.17 If you are a caregiver of an individual with autism and would like to participate in testing the accuracy of this evaluation, please visit the Autworks Page.
Through standardization, collaboration, and data sharing the AGRE program has accomplished a great deal in determining how genetics and autism interrelate.2 The work being conducted by the AGRE Consortium has opened the doors for many areas concerning genetic research and ASD, as evidenced by the hundreds of published studies which have used data from AGRE since 2001.5 The model that AGRE has developed is applicable to other disorders with complex etiologies.2 The continuing growth of the AGRE data bank is expanding genetic research into autism spectrum disorder, and has proven to be an invaluable resource to the autism community.