Review Paper

Human Genetics

, Volume 130, Issue 1, pp 123-148

First online:

Risk factors for autism: translating genomic discoveries into diagnostics

  • Stephen W. SchererAffiliated withMcLaughlin Centre and The Centre for Applied Genomics, The Hospital for Sick ChildrenDepartment of Molecular Genetics, University of Toronto Email author 
  • , Geraldine DawsonAffiliated withAutism Speaks and Department of Psychiatry, University of North Carolina, Chapel Hill

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Autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in communication and reciprocal social interaction, and the presence of restricted and repetitive behaviors. The spectrum of autistic features is variable, with severity of symptoms ranging from mild to severe, sometimes with poor clinical outcomes. Twin and family studies indicate a strong genetic basis for ASD susceptibility. Recent progress in defining rare highly penetrant mutations and copy number variations as ASD risk factors has prompted early uptake of these research findings into clinical diagnostics, with microarrays becoming a ‘standard of care’ test for any ASD diagnostic work-up. The ever-changing landscape of the generation of genomic data coupled with the vast heterogeneity in cause and expression of ASDs (further influenced by issues of penetrance, variable expressivity, multigenic inheritance and ascertainment) creates complexity that demands careful consideration of how to apply this knowledge. Here, we discuss the scientific, ethical, policy and communication aspects of translating the new discoveries into clinical and diagnostic tools for promoting the well-being of individuals and families with ASDs.