The panel will present an integrated ‘State of the Art’ discussion of autism genetics illustrated by past and recent findings from the Autism Genome Project (AGP). Our emerging data highlights the complexity of ASD genetics and relative contributions of rare and common genetic variation to ASD aetiology. We will present evidence supporting the role of rare Copy Number Variants (CNV) in ASD in a proportion of cases. Importantly our data demonstrates convergence on functionally related pathways helping to piece together the neurobiological underpinnings of the condition. We will explore the phenotypic heterogeneity that exists within ASD, possible overlaps with other neurodevelopmental disorders and describe our analyses of the complex relationship between genetics and clinical outcomes. Our discussion will consider the challenges to overcome to interpret these relationships and their clinical translation in the form of improved diagnostics and treatments for ASD. This emerging knowledge carries a set of ethical considerations and challenges to be worked through in the best interests of individuals with ASD and their families. We will illustrate this through the outcomes of recent investigations of parental understanding and desire for genetic testing in ASD.