
Clinical Implementation of Pharmacogenetic Testing
Understanding and taking into consideration genetic variation and its impact on medication response and side effects.
Image credit: pressfoto
Pharmacogenetics at CAMH
At CAMH, we’re moving toward personalized and precision medicine by using our unique and individual genetic information to provide practical and affordable treatment guidance. The Pharmacogenetics Research Clinic at CAMH started in 2009, focusing on pharmacogenetic testing to optimize drug therapy and realize precision medicine in psychiatry. Patients were referred to our clinic to test their CYP2D6 and CYP2C19 liver enzyme gene variants to optimize their drug therapy for underlying mood or psychotic disorders, such as depression and schizophrenia.
The video below briefly explains the concept and importance of pharmacogenetics.
What happens next?
Our clinic received patient referrals for individuals experiencing inadequate response or intolerable side effects after treatment with antidepressant or antipsychotic medications. After conducting evidenced genetic testing, patients and their referring physicians received a report with their genetic metabolizer status and recommendations on which medications to avoid due to suspected poor metabolism of medications.
PGxRC workflow for pharmacogenetic testing and assessing feedback from patients and physicians.
What did we find?
Overall, we detected that individuals with reduced drug metabolism profiles were more likely to have poor drug therapy outcomes for either or both of the CYP2D6 and CYP2C19 liver enzyme genes. Physicians were later asked to provide feedback through our developed “Pharmacogenetics in Psychiatry Follow-up” (PIP-FQ) questionnaire. The reports were ‘very well understood’ by physicians demonstrating the overall feasibility of pharmacogenetic implementation in clinical practice.
Moreover, the feedback provided by physicians and patients has been very favourable, suggesting that pharmacogenetic testing improves treatment with no harm or negative experiences reported by patients (for details, see Müller et al., 2013; Walden et al., 2015 and Walden et al., 2019).
In the second phase of the study, additional genes were tested for research purposes. Our study integrated with the larger IMPACT trial with more than 11,000 patients tested (for details, see Herbert et al., 2018). Again, we found a high number of individuals with poor drug metabolism profiles suggesting that patients are more likely referred for genetic testing if they had experience poor drug therapy outcomes in the past due to their genetic makeup.
Guidelines for pharmacogenetics
Our group has regularly published articles reviewing the current evidence and recommendations for the use of pharmacogenetic information in clinical practice to promote personalized medicine (for details, see Read More). The most recent review is based on the consensus of a large group of investigators who initiated this work as part of the Genetic Testing Taskforce of the International Society of Psychiatric Genetics (ISPG; for details, see Bousman et al., 2020).
READ MORE
Clinical Pharmacogenetics Implementation Consortium (CPIC) - Overview of CPIC (PDF)
PharmGKB: A pharmacogenomics knowledge resource.
Selected Publications
Psychiatric Pharmacogenomic Testing: A Primer for Clinicians
Brown LC, Zai G, Kennedy JL, Müller DJ, Tavakoli E, Bousman C, Maruf AA. Psychiatr Clin North Am. 2025 Jun;48(2):257-264.
Psychiatric Genetics in Clinical Practice: Essential Knowledge for Mental Health Professionals
Besterman AD, Alnor MA, Castaño M, DeLisi LE, Grice DE, Lohoff FW, Middeldorp CM, Müller DJ, Quattrone D, Nurnberger J Jr, Nurmi EL, Ross DA, Soda T, Schulze TG, Trost B, Vilella E, Yap CX, Zai G, Moreno-De-Luca D. Am J Psychiatry. 2025 Mar 26:appiajp20240295.
Canadian Network for Mood and Anxiety Treatments (CANMAT) 2023 Update on Clinical Guidelines for Management of Major Depressive Disorder in Adults
Lam RW, Kennedy SH, Adams C, Bahji A, Beaulieu S, Bhat V, Blier P, Blumberger DM, Brietzke E, Chakrabarty T, Do A, Frey BN, Giacobbe P, Gratzer D, Grigoriadis S, Habert J, Ishrat Husain M, Ismail Z, McGirr A, McIntyre RS, Michalak EE, Müller DJ, …, Milev RV. Can J Psychiatry. 2024 Sep;69(9):641-687.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants
Bousman CA, Stevenson JM, Ramsey LB, Sangkuhl K, Hicks JK, Strawn JR, Singh AB, Ruaño G, Mueller DJ, Tsermpini EE, Brown JT, Bell GC, Leeder JS, Gaedigk A, Scott SA, Klein TE, Caudle KE, Bishop JR. Clin Pharmacol Ther. 2023 Jul;114(1):51-68.
From the Origins of Pharmacogenetics to First Applications in Psychiatry.
Müller DJ, Rizhanovsky Z. Pharmacopsychiatry. 2020 Jul;53(4):155-161.
Pharmacogenetics in Psychiatry: An Update on Clinical Usability.
van Schaik RHN, Müller DJ, Serretti A, Ingelman-Sundberg M. Front Pharmacol. 2020 Sep 11;11:575540.
Pharmacogenomics: Towards A New ERA Of Personalized Medicine In Psychiatry?
Mueller DJ. Eur Neuropsychopharmacol 2019; 29: S717–S718.
Genetic testing as a supporting tool in prescribing psychiatric medication: Design and protocol of the IMPACT study.
Herbert D, Neves-Pereira M, Baidya R, Cheema S, Groleau S, Shahmirian A, Tiwari AK, Zai CC, King N, Müller DJ, Kennedy JL. J Psychiatr Res. 2018 Jan;96:265-272.
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update.
Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George AL Jr., Mushiroda T, Klein T, Gammal RS, Pirmohamed M. Clinical Pharmacology & Therapeutics 2018; 103: 574-581.
Towards the implementation of CYP2D6and CYP2C19 genotypes in clinical practice: update and report from a pharmacogenetic service clinic.
Müller DJ, Kekin I, Kao AC, Brandl EJ. Int Rev Psychiatry. 2013; 25:554-571.