DOI: 10.1007/s13311-017-0551-x Pages: 564-581
Article Type: Review

Genetic Approaches to Understanding Psychiatric Disease

1. University of Iowa Carver College of Medicine, Department of Psychiatry

2. University of Iowa College of Engineering, Department of Biomedical Engineering

3. University of Iowa College of Liberal Arts and Sciences, Department of Communication Sciences and Disorders

4. University of Iowa, Iowa Institute of Human Genetics

5. University of Iowa, Genetics Cluster Initiative

6. University of Iowa, The DeLTA Center

7. University of Iowa Informatics Initiative, University of Iowa

Correspondence to:
Jacob J. Michaelson



Human genetic studies have been the driving force in bringing to light the underlying biology of psychiatric conditions. As these studies fill in the gaps in our knowledge of the mechanisms at play, we will be better equipped to design therapies in rational and targeted ways, or repurpose existing therapies in previously unanticipated ways. This review is intended for those unfamiliar with psychiatric genetics as a field and provides a primer on different modes of genetic variation, the technologies currently used to probe them, and concepts that provide context for interpreting the gene–phenotype relationship. Like other subfields in human genetics, psychiatric genetics is moving from microarray technology to sequencing-based approaches as barriers of cost and expertise are removed, and the ramifications of this transition are discussed here. A summary is then given of recent genetic discoveries in a number of neuropsychiatric conditions, with particular emphasis on neurodevelopmental conditions. The general impact of genetics on drug development has been to underscore the extensive etiological heterogeneity in seemingly cohesive diagnostic categories. Consequently, the path forward is not in therapies hoping to reach large swaths of patients sharing a clinically defined diagnosis, but rather in targeting patients belonging to specific “biotypes” defined through a combination of objective, quantifiable data, including genotype.

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  • Online: Jun 12, 2017

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