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Autism genetics: opportunities and challenges for clinical translation

2017; Nature Portfolio; Volume: 18; Issue: 6 Linguagem: Inglês

10.1038/nrg.2017.4

1471-0064

Jacob Vorstman, Jeremy Parr, Daniel Moreno‐De‐Luca, Richard Anney, John I. Nürnberger, Joachim Hallmayer,

Genetics and Neurodevelopmental Disorders

Various large studies have provided unprecedented insights into the genetics of autism spectrum disorders (ASDs). This Review discusses the challenges and opportunities of translating genetic and biological insights into clinical progress for ASDs, in areas including genetic testing, ASD classification, genetic counselling, comorbidities and therapeutics. Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.