EP287: Return of individual genetic results in the largest recontactable cohort of individuals with autism

Abstract

SPARK (SPARKforAutism.org)—the largest recontactable cohort of people with autism spectrum disorder (ASD)—seeks to engage at least 50,000 individuals with autism and their family members in research. A tenet of the study is to form a partnership with participants and return research results to them. As part of this goal, SPARK returns ACMG likely pathogenic (LP) and pathogenic (P) variants from a predefined list of 167 high-confidence ASD genes and 43 copy number variants (CNVs) as well as developmental disorder genes curated by the Developmental Disorder Genotype - Phenotype Database (DDG2P).