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Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

  • Genetic Disorders (F Goes, Section Editor)
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Abstract

Purpose of Review

The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance.

Recent Findings

Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal “hotspots” (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression. Although individually rare, genomic disorders collectively account for a significant minority of intellectual disability, autism spectrum disorder, and schizophrenia.

Summary

Genome-wide chromosomal microarray analysis is capable of detecting all genomic disorders in a single test, offering the first opportunity for routine clinical genetic testing in psychiatric practice.

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Acknowledgements

Chelsea Lowther is supported by a Frederick Banting and Charles Best Canadian Institutes of Health Research Doctoral Award. Anne S. Bassett holds the Dalglish Chair in 22q11.2 Deletion Syndrome at the University Health Network.

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Authors and Affiliations

  1. Clinical Genetics Research Program, Centre for Addiction and Mental Health, 33 Russell Street, Room 1100, Toronto, ON, M5S 2S1, Canada

    Chelsea Lowther & Anne S. Bassett

  2. Institute of Medical Science, University of Toronto, Toronto, ON, Canada

    Chelsea Lowther & Anne S. Bassett

  3. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Medical Genetics Residency Training Program, University of Toronto, Toronto, ON, Canada

    Gregory Costain

  4. Department of Psychiatry, University of Toronto, Toronto, ON, Canada

    Danielle A. Baribeau & Anne S. Bassett

  5. Dalglish Family 22q Clinic for Adults with 22q11.2 Deletion Syndrome and Toronto General Research Institute, University Health Network, and Campbell Family Mental Health Research Institute, Toronto, ON, Canada

    Anne S. Bassett

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  1. Chelsea Lowther
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Correspondence to Anne S. Bassett.

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Chelsea Lowther, Gregory Costain, Danielle A. Baribeau, and Anne S. Bassett declare that they have no conflict of interest.

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This article does not involve direct studies with human or animal. The article is a review of multiple studies, several of which involve human subjects by the authors.

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This article is part of the Topical Collection on Genetic Disorders

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Lowther, C., Costain, G., Baribeau, D.A. et al. Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?. Curr Psychiatry Rep 19, 82 (2017). https://doi.org/10.1007/s11920-017-0831-5

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