Risk factors for autism: translating genomic discoveries into diagnostics

Hum Genet. 2011 Jul;130(1):123-48. doi: 10.1007/s00439-011-1037-2. Epub 2011 Jun 24.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics
  • Child
  • Child Development Disorders, Pervasive / diagnosis
  • Child Development Disorders, Pervasive / genetics*
  • DNA Copy Number Variations*
  • Environment
  • Health Policy*
  • Humans
  • Interdisciplinary Communication*
  • Mutation
  • Risk Factors
  • Standard of Care
  • Translational Medical Research