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

doi:10.1038/nrg.2017.4

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

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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 language	English
Pages (from-to)	362-376
Number of pages	15
Journal	Nature Reviews. Genetics
Volume	18
Issue number	6
DOIs	https://doi.org/10.1038/nrg.2017.4
Publication status	Published - Jun 2017

Keywords

Autistic Disorder
Genetic Predisposition to Disease
Genotyping Techniques
Humans

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10.1038/nrg.2017.4

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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.",

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AU - Vorstman, Jacob A S

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AU - Moreno-De-Luca, Daniel

AU - Anney, Richard J L

AU - Nurnberger, John I

AU - Hallmayer, Joachim F

PY - 2017/6

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AB - 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.

KW - Autistic Disorder

KW - Genetic Predisposition to Disease

KW - Genotyping Techniques

KW - Humans

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JO - Nature Reviews. Genetics

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Autism genetics: opportunities and challenges for clinical translation

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Keywords

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