Review and Consensus on Pharmacogenomic Testing in Psychiatry

Pharmacopsychiatry. 2021 Jan;54(1):5-17. doi: 10.1055/a-1288-1061. Epub 2020 Nov 4.


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 types

  • Systematic Review

MeSH terms

  • Anticonvulsants / therapeutic use
  • Antidepressive Agents / therapeutic use*
  • Antipsychotic Agents / therapeutic use*
  • Cytochrome P-450 CYP2C19 / genetics
  • Cytochrome P-450 CYP2D6 / genetics
  • Dose-Response Relationship, Drug
  • HLA Antigens / genetics
  • Humans
  • Pharmacogenomic Testing / methods*
  • Pharmacogenomic Testing / standards
  • Practice Guidelines as Topic
  • Psychiatry / methods*
  • Psychiatry / standards
  • Urea Cycle Disorders, Inborn / drug therapy
  • Urea Cycle Disorders, Inborn / genetics


  • Anticonvulsants
  • Antidepressive Agents
  • Antipsychotic Agents
  • HLA Antigens
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6