SFARI announces that a new article summarizing the first year’s activities of SPARK — a SFARI-funded study that aims to recruit, engage and retain 50,000 individuals with autism spectrum disorder (ASD) and their family members — was published in the journal Neuron today1. The paper was authored by the SPARK Consortium, a group of 216 researchers, data analysts and software developers led by SFARI scientists Pamela Feliciano and Wendy Chung.
In the paper, Feliciano, Chung and colleagues emphasize the need for large-scale genomics studies in autism research and argue that whole-exome sequencing of 50,000 ASD trios would be sufficient to discover many genetic risk variants of large effect in ASD. The authors also present a density map illustrating the geographic distribution of the 18,809 participants with ASD who were enrolled in the first year of SPARK recruitment across the United States. Eighty-one percent of participants were recruited through the SPARK Clinical Site Network. More information on the SPARK Clinical Sites can be found here.
Two major goals of SPARK are advancing research on genetically defined subtypes of ASD and empowering and engaging its study participants. In their article, Feliciano et al. outline their commitment to return results of pathogenic ASD variants to the participants in which they are found. This approach may be more broadly applicable to other human research cohorts.
Finally, the authors discuss the lessons learned from the first year of the study. A significant challenge for SPARK was the recruitment of the proband’s family members, which is instrumental to enable genetic analysis of de novo variants — genetic variants that are found in individuals with autism but not in their mothers or fathers. Overall, the authors noted that only 55 percent of families in which both parents are available actually completed enrollment. However, emails and messages that implemented humor to encourage mothers to motivate fathers increased the percentage of completion by full families to 72 percent. These observations show that using humor and plain language on social media are effective strategies for the recruitment of a large number of families.
Earlier in the year, the SPARK study also launched its Research Matching Program, which helps researchers recruit participants for their own independent research studies. Several external investigators have already successfully been able to collect data from thousands of SPARK participants in a short time period, thus emphasizing the new possibilities in clinical research that SPARK enables.
In summary, SPARK aims to facilitate and advance autism research by collecting genomic, environmental, longitudinal behavioral and medical information on a large cohort of individuals with autism and their family members, and by providing the ability for researchers to recontact those participants.
More information on genomic and phenotypic data currently available for research can be found here.