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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Predictive and diagnostic genetic testing in psychiatry.

Philip B Mitchell¹, Bettina Meiser, Alex Wilde

¹School of Psychiatry, Prince of Wales Hospital, University of New South Wales, Randwick, Sydney, NSW 2031, Australia. phil.mitchell@unsw.edu.au

The Psychiatric Clinics of North America

|February 18, 2010

Summary

Commercially available genetic tests for mental illnesses are controversial. Current research shows complex genetic origins, questioning the utility of these predictive psychiatric genetic tests.

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Area of Science:

Psychiatry
Genetics
Medical Diagnostics

Background:

Commercially available genetic tests for mental illnesses have emerged, sparking debate within the psychiatric research community.
Highly heritable psychiatric conditions, like schizophrenia, are increasingly understood to result from multiple small-effect genetic variants and their interactions.
Rare de novo copy number variants also contribute, but their lack of disease specificity raises concerns.

Purpose of the Study:

To review the current landscape of genetic testing for mental illnesses.
To contrast direct-to-consumer genetic tests with findings from genome-wide association studies.
To discuss the prerequisites, opportunities, and challenges of genetic testing in psychiatry.

Main Methods:

Review of current literature on genetic testing in psychiatry.
Analysis of genome-wide association studies (GWAS) in relation to psychiatric disorders.
Discussion of clinical validity, utility, and patient/clinician perspectives.

Main Results:

Evidence suggests complex genetic architectures for psychiatric disorders, involving multiple variants of small effect.
Direct-to-consumer genetic tests may lack clinical validity and utility for complex psychiatric conditions.
Patient and clinician understanding of genetic testing for mental illness varies, with potential for increased stigma.

Conclusions:

The current evidence does not fully support the widespread use of predictive genetic tests for complex psychiatric disorders.
Further research is needed to establish the clinical validity and utility of genetic tests in psychiatry.
Recommendations are provided for the responsible development and implementation of future psychiatric genetic testing.