SFARI Base: An efficacious, agile disease-specific research repository promotes advances in autism research

Background: The goals of the Simons Simplex Collection (SSC) are to acquire the largest sample to date of simplex families with idiopathic autism in a compressed time-frame, maintain the highest data quality standards and disseminate data and biospecimens to the research community efficiently. The Simons Foundation partnered with a software vendor (Prometheus Research, LLC) to develop a distributed, Web-based, informatics system called SFARI Base. Learning Objectives: 1. Describe the goals of SFARI Base. 2. List the benefits of designing a flexible disease registry 3. Identify several ways that health technology can facilitate data collection and dissemination for disease registries. Methods: SFARI Base employs a distributed architecture, in which clinical sites use software (SFARI Outpost) to locally manage studies, define protocols, screen families, enroll participants and enter data. SFARI Outpost de-identifies the data and transmits them to a central repository. Data-quality consultants use validation tools to review submitted families and help sites identify and repair problems. Researchers access curated data and biospecimens through a Web interface (base.sfari.org). Results: By July 2011, the SSC will have accrued over 2,500 families. At present, more than 65 different research groups have made over 250 requests for SSC data or materials, and nearly 120,000 DNA samples have been shipped. Results from whole genome scans performed using both Illumina and Nimblegen chips are available for nearly 1,000 families, with results from additional families and analysis types expected in 2011. Conclusions: The SSC's ambitious goals required development of innovative technologies and procedures. SFARI invested in infrastructure to deliver a system that was adaptable in the face of rapid change and established a governance structure to respond to evolving needs. SFARI Base provides support for new studies, new data types, and new functions at a relatively low cost and a rapid timeline.