, Volume 14, Issue 3, pp 564–581

Genetic Approaches to Understanding Psychiatric Disease



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.

Key Words

Psychiatric genetics copy number variant sequencing microarrays GWAS 

Supplementary material

13311_2017_551_MOESM1_ESM.pdf (1.2 mb)
ESM 1(PDF 1224 kb)


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Copyright information

© The American Society for Experimental NeuroTherapeutics, Inc. 2017

Authors and Affiliations

  1. 1.Department of PsychiatryUniversity of Iowa Carver College of MedicineIowa CityUSA
  2. 2.Department of Biomedical EngineeringUniversity of Iowa College of EngineeringIowa CityUSA
  3. 3.Department of Communication Sciences and DisordersUniversity of Iowa College of Liberal Arts and SciencesIowa CityUSA
  4. 4.Iowa Institute of Human GeneticsUniversity of IowaIowa CityUSA
  5. 5.Genetics Cluster InitiativeUniversity of IowaIowa CityUSA
  6. 6.The DeLTA CenterUniversity of IowaIowa CityUSA
  7. 7.University of Iowa Informatics Initiative, University of IowaIowa CityUSA

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