Autism genetics: Opportunities and challenges for clinical translation

Jacob A.S. Vorstman, Jeremy R. Parr, Daniel Moreno-De-Luca, Richard J.L. Anney, John I. Nurnberger, Joachim F. Hallmayer

Research output: Contribution to journalReview article

118 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)362-376
Number of pages15
JournalNature Reviews Genetics
Volume18
Issue number6
DOIs
StatePublished - Jun 1 2017

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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    Vorstman, J. A. S., Parr, J. R., Moreno-De-Luca, D., Anney, R. J. L., Nurnberger, J. I., & Hallmayer, J. F. (2017). Autism genetics: Opportunities and challenges for clinical translation. Nature Reviews Genetics, 18(6), 362-376. https://doi.org/10.1038/nrg.2017.4