Autism genetics: opportunities and challenges for clinical translation. - PubMed - NCBI

Autism genetics: opportunities and challenges for clinical translation. - PubMed - NCBI

Nat Rev Genet. 2017 Mar 6. doi: 10.1038/nrg.2017.4. [Epub ahead of print]

Autism genetics: opportunities and challenges for clinical translation.

Vorstman JA1, Parr JR2, Moreno-De-Luca D3, Anney RJ4, Nurnberger JI Jr5,6, Hallmayer JF7.

Author information

Abstract

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.

PMID:

 

28260791

 

DOI:

 

10.1038/nrg.2017.4

Last Posted: Mar 16, 2017

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