AGRE Program Description

Autism Speaks AGRE

Program Description


The Autism Genetic Resource Exchange (AGRE) is a non-profit DNA repository and family registry housing a database of genotypic and phenotypic information that is available to autism researchers worldwide. AGRE is an unprecedented resource for the study of autism genetics.

One of the world's largest shared resources for the study of autism and related disorders, AGRE houses a collection of over 1700 well-characterized multiplex and simplex families made available to the greater scientific community. Founded by Cure Autism Now (CAN) in 1997, AGRE is currently funded by the National Institute of Mental Health (NIMH) and Autism Speaks, which merged with CAN in 2006. Thanks to Autism Speaks and its thousands of supporters, AGRE will continue to serve as a moving force in the advancement of autism research.

Complex neuropsychiatric disorders such as autism are best approached by collaborative research efforts that pool large samples to generate meaningful results. AGRE exists to serve researchers in the field of autism and, as such, is committed to meeting the needs of individual researchers, institutions, and collaborative research groups. 

The AGRE research program is located in the Autism Speaks offices in Los Angeles, California. The AGRE staff oversees protocols for phlebotomy, clinical evaluations, data collection and storage, pedigree generation, and the distribution of quality-controlled DNA, cell lines, and plasma samples. Biomaterial production and storage are located at the Rutgers University Cell and DNA Repository (RUCDR) directed by Dr. Jay Tischfield and under contract with AGRE. 

Program highlights include:

Genotypic Data

  • High-density SNP
  • Whole Genome Scan and Finemapping
  • Genome-wide High-density 10K SNP data on 426 families from the Autism Genome Project (AGP)
  • Cell lines, DNA and plasma are available for purchase

Phenotypic Data

  • ADI-R and ADOS testing results with all interview data points and computer scored algorithm
  • Cognitive assessments and other interview forms/questionnaires
  • Medical histories, environmental exposure histories, and physical neurological exam data are available for a subset of our population

Additional Program Highlights:

  • ISAAC’s data management system is available to researchers through AGRE. The system is web-based, enabling easy collaboration, user and patient management and data sharing.

  • In 2008, AGRE began collecting parent-report assessments through the Online System for Clinical Research (OSCR). OSCR was developed as a tool to accelerate the pace of research and keep families involved in the process. OSCR, which concluded in 2017, allowed our team to provide researchers with thousands of additional data points on our families.

Scientific and Regulatory Oversight:

Regulatory review, approval, and oversight of AGRE's human subject research is provided by Western IRB, an AAHRPP-accredited Independent Review Board located in Olympia, WA. Click here for the current IRB approval notice.

Phenotypic and Genotypic Data:

All AGRE-approved researchers are given access to the data as they are made available on the AGRE researcher website. The AGRE collection contains the phenotypic and genotypic data outlined below. Not all data points are available for every member. Please check the website for availability before ordering biomaterials. 

Clinical Data:

  • Autism Diagnostic Interview-Revised (ADI-R)
  • Autism Diagnostic Observation Schedule (ADOS)
  • Peabody Picture Vocabulary Test (PPVT)
  • Raven Coloured Progressive Matrices 
  • Vineland Adaptive Behavior Scales 
  • Social Communication Questionnaire (SCQ)
  • Repetitive Behavior Scale 
  • Stanford Binet Intelligence Scales, 5th Edition (SB-5)
  • Social Responsiveness Scale (SRS)
  • Language Questionnaire

Medical Data:

  • Physical and neurological exams for children, both affected and unaffected (limited to a subset of AGRE families)
  • Medical history for children and parents
  • Handedness questionnaire
  • Language questionnaire for unaffected children and parents
  • Head circumference

Genotype Data:

  • Zygosity
  • Fragile X screening (one child per family)
  • Karyotyping or chromosomal analysis
  • Whole genome scan
  • Candidate gene data
  • High-density SNP genotypes
  • Genome Wide Association Study data

Demographic Data:

  • Age at time of testing
  • Sex
  • Race
  • Ethnicity

Online Questionnaires:

Because there may be a substantial wait before a phlebotomist or psychometrician is able to visit the family in their home, AGRE participants were able to fill out some of the study questionnaires on-line prior to the initial home visit and during subsequent phases of the research project. This was made possible through AGRE’s online data acquisition system, referred to as OSCR, the Online System for Clinical Research. Standard assessments such as the Social Communications Questionnaire (SCQ) and Social Responsiveness Scale (SRS), as well as medical history and demographic information were collected. New assessments and questionnaires were made available for subjects to complete, allowing AGRE to continue data collection and add new questionnaires even after in-home data collection was completed. OSCR also allowed users to view summaries of how the user community as a whole responded to specific questions, thus providing feedback to families and keeping them even more connected to the research project. 

Flags for Possible Non-Idiopathic Autism:

  • Chromosomal abnormalities
  • Known neurogenetic disorders
  • Other diagnosed medical or psychiatric disorders
  • Abnormal neurological exams
  • Abnormal imaging or medical tests
  • Significant dysmorphology
  • Fragile X (full mutation)
  • Pre- or peri-natal injuries/prematurity <35 weeks
  • SNRPN duplications

Quality Control:

AGRE is committed to providing researchers with the highest quality of phenotypic data possible. Audits are conducted to ensure the integrity and accuracy of the information collected, in addition to on-going reviews of clinical and diagnostic assessments. All of AGRE's psychometricians are trained by a research-certified ADI-R/ADOS trainer and undergo reliability reviews throughout the data collection process. The reliability protocol requires re-rating ten percent of the ADI-R and ADOS assessments conducted by AGRE. Most of the assessments are scored and validated through the Internet System for Assessing Autistic Children (ISAAC), thereby eliminating manual scoring errors.