Pharmacopsychiatry 2021; 54(01): 5-17
DOI: 10.1055/a-1288-1061

Review and Consensus on Pharmacogenomic Testing in Psychiatry

Chad A. Bousman
1   Departments of Medical Genetics, Psychiatry, Physiology & Pharmacology, University of Calgary, Calgary, AB, Canada
2   Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada
3   Alberta Children’s Hospital Research Institute, Calgary, AB, Canada
4   Department of Psychiatry, Melbourne Medical School, The University of Melbourne, Melbourne, VIC, Australia
Susanne A. Bengesser
5   Department of Psychiatry and Psychotherapeutic Medicine, Medical University of Graz, Austria
Katherine J. Aitchison
6   Departments of Psychiatry, Medical Genetics and the Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada
Azmeraw T. Amare
7   Discipline of Psychiatry, School of Medicine, University of Adelaide, Adelaide, SA, Australia
8   South Australian Health and Medical Research Institute (SAHMRI), Adelaide, SA, Australia
Harald Aschauer
9   Biopsychosocial Corporation (BioPsyC), non-profit association, Vienna, Austria
Bernhard T. Baune
10   Department of Psychiatry and Psychotherapy, University of Münster, Germany
4   Department of Psychiatry, Melbourne Medical School, The University of Melbourne, Melbourne, VIC, Australia
11   The Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia
Bahareh Behroozi Asl
6   Departments of Psychiatry, Medical Genetics and the Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada
Jeffrey R. Bishop
12   Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy and Department of Psychiatry, University of Minnesota Medical School, Minneapolis, MN, USA
Margit Burmeister
13   Michigan Neuroscience Institute and Departments of Computational Medicine & Bioinformatics, Human Genetics and Psychiatry, The University of Michigan, Ann Arbor MI, USA
Boris Chaumette
14   Institute of Psychiatry and Neuroscience of Paris, GHU Paris Psychiatrie & Neurosciences, University of Paris, Paris, France
15   Department of Psychiatry, McGill University, Montreal, Canada
Li-Shiun Chen
16   Departments of Psychiatry and Genetics, Washington University School of Medicine in St. Louis, USA
Zachary A. Cordner
17   Department of Psychiatry & Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Jürgen Deckert
18   Department of Psychiatry, Psychosomatics and Psychotherapy, Center of Mental Health, Würzburg, Germany
Franziska Degenhardt
19   Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany
20   Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Duisburg, Germany
Lynn E. DeLisi
21   Department of Psychiatry, Harvard Medical School, Cambridge Health Alliance, Cambridge, Massachusetts, USA
Lasse Folkersen
22   Institute of Biological Psychiatry, Capital Region Hospitals, Copenhagen, Denmark
James L. Kennedy
23   Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
24   Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
Teri E. Klein
25   Department of Biomedical Data Science, Stanford University, Stanford, California, USA
Joseph L. McClay
26   Department of Pharmacotherapy and Outcome Science, Virginia Commonwealth University School of Pharmacy, Richmond, VA, USA
Francis J. McMahon
27   Human Genetics Branch, National Institute of Mental Health, Bethesda, MD, USA
Richard Musil
28   Department of Psychiatry and Psychotherapy, Ludwig-Maximilians-University, Munich, Germany
Nancy L. Saccone
16   Departments of Psychiatry and Genetics, Washington University School of Medicine in St. Louis, USA
Katrin Sangkuhl
25   Department of Biomedical Data Science, Stanford University, Stanford, California, USA
Robert M. Stowe
29   Departments of Psychiatry and Neurology (Medicine), University of British Columbia, USA
Ene-Choo Tan
30   KK Research Centre, KK Women’s and Children’s Hospital, Singapore, Singapore
Arun K. Tiwari
23   Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
24   Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
Clement C. Zai
23   Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
24   Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
Gwyneth Zai
23   Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
24   Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
Jianping Zhang
31   Department of Psychiatry, Weill Cornell Medical College, New York-Presbyterian Westchester Division, White Plains, NY, USA
Andrea Gaedigk
32   Division of Clinical Pharmacology, Toxicology & Therapeutic Innovation, Children’s Mercy Kansas City, Kansas City and School of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA
Daniel J Müller
23   Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
24   Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada
› Author Affiliations
Funding: The work was supported in part by an Alberta Innovates Strategic Research Project G2018000868 (Drs. Aitchison and Bousman), the Neuroscience and Mental Health Institute and Department of Psychiatry, University of Alberta (Ms. Behroozi Asi), NARSAD Young Investigator Grant from the Brain & Behaviour Research Foundation (Dr. Amare), the Foundation Bettencourt-Schueller (Dr. Chaumette), the European COST Action EnGagE CA17130 (Dr. Degenhardt), the German Federal Ministry of Education and Research e:Med programme (Dr. Degenhardt), the NIH/NHGRI U24 HG010615 (Drs. Klein and Sangkuhl), the NIH/NIGMS R24 GM123930 (Dr. Gaedigk), the NIDA R01 DA038076 (Dr. Li-Shiun), and the NIMH Intramural Research Program (Dr. McMahon).


The implementation of pharmacogenomic (PGx) testing in psychiatry remains modest, in part due to divergent perceptions of the quality and completeness of the evidence base and diverse perspectives on the clinical utility of PGx testing among psychiatrists and other healthcare providers. Recognizing the current lack of consensus within the field, the International Society of Psychiatric Genetics assembled a group of experts to conduct a narrative synthesis of the PGx literature, prescribing guidelines, and product labels related to psychotropic medications as well as the key considerations and limitations related to the use of PGx testing in psychiatry. The group concluded that to inform medication selection and dosing of several commonly-used antidepressant and antipsychotic medications, current published evidence, prescribing guidelines, and product labels support the use of PGx testing for 2 cytochrome P450 genes (CYP2D6, CYP2C19). In addition, the evidence supports testing for human leukocyte antigen genes when using the mood stabilizers carbamazepine (HLA-A and HLA-B), oxcarbazepine (HLA-B), and phenytoin (CYP2C9, HLA-B). For valproate, screening for variants in certain genes (POLG, OTC, CSP1) is recommended when a mitochondrial disorder or a urea cycle disorder is suspected. Although barriers to implementing PGx testing remain to be fully resolved, the current trajectory of discovery and innovation in the field suggests these barriers will be overcome and testing will become an important tool in psychiatry.

Publication History

Received: 09 July 2020
Received: 05 October 2020

Accepted: 07 October 2020

Article published online:
04 November 2020

© 2020. Thieme. All rights reserved.

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