Psych · Psychopharmacology — pharmacogenomics
Pharmacogenomics in psychiatry
Also known as Psychiatric pharmacogenetics · CYP2D6 CYP2C19 antidepressants · HLA-B*1502 carbamazepine · CPIC psychiatry · PGx testing depression · Atomoxetine CYP2D6
Exam-exhaustive fellowship reference on psychiatric pharmacogenomics — CYP metaboliser phenotypes, CPIC antidepressant and atomoxetine guidance, HLA safety testing for carbamazepine/oxcarbazepine, commercial panel limits, GUIDED/PRIME Care literacy, TDM integration, and counselling. FRANZCP-primary, globally tagged.
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Target exams
Red flags
- HLA-B*15:02 positive and carbamazepine/oxcarbazepine planned in a drug-naive patient — avoid; use alternative unless exceptional specialist rationale
- New blistering rash, mucosal involvement, or systemic features after aromatic anticonvulsant — stop drug and treat as possible SJS/TEN/DRESS; do not rechallenge
- Commercial PGx colour-bin report used to stop a working regimen without clinical indication
- Ignoring strong CYP2D6 inhibitors (paroxetine, fluoxetine, bupropion) that phenoconvert genotype toward poor-metaboliser exposure
- Assuming negative HLA-B*15:02 means zero cutaneous risk
- Delaying urgent treatment of severe mental illness solely to wait for non-urgent optional CYP panel results
Meet the patient
A 38-year-old teacher walks in carrying a glossy folder. She has been well for two years on sertraline 100 mg — back at work, sleeping, no relapse. A direct-to-consumer pharmacogenomics panel has painted sertraline red. She wants it stopped today, and she wants "the green one".[3][8]
Two exam questions just walked through the door with her. Do you obey the colour wheel? and what is a pharmacogenomic result actually for? Every paragraph below exists to answer both.[3][8]
References16ShowHide
- [1]Hicks JK, Bishop JR, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors Clin Pharmacol Ther, 2015.PMID 25974703
- [2]Hicks JK, Sangkuhl K, Swen JJ, et al. Clinical pharmacogenetics implementation consortium guideline (CPIC) for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants: 2016 update Clin Pharmacol Ther, 2017.PMID 27997040
- [3]Bousman CA, Stevenson JM, Ramsey LB, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6, CYP2C19, CYP2B6, SLC6A4, and HTR2A Genotypes and Serotonin Reuptake Inhibitor Antidepressants Clin Pharmacol Ther, 2023.PMID 37032427
- [4]Phillips EJ, Sukasem C, Whirl-Carrillo M, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update Clin Pharmacol Ther, 2018.PMID 29392710
- [5]Chen P, Lin JJ, Lu CS, et al. Carbamazepine-induced toxic effects and HLA-B*1502 screening in Taiwan N Engl J Med, 2011.PMID 21428768
- [6]McCormack M, Alfirevic A, Bourgeois S, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans N Engl J Med, 2011.PMID 21428769
- [7]Chung WH, Hung SI, Hong HS, et al. Medical genetics: a marker for Stevens-Johnson syndrome Nature, 2004.PMID 15057820
- [8]Bousman CA, Bengesser SA, Aitchison KJ, et al. Review and Consensus on Pharmacogenomic Testing in Psychiatry Pharmacopsychiatry, 2021.PMID 33147643
- [9]Greden JF, Parikh SV, Rothschild AJ, et al. Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study J Psychiatr Res, 2019.PMID 30677646
- [10]Oslin DW, Lynch KG, Shih MC, et al. Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial JAMA, 2022.PMID 35819423
- [11]Brown JT, Bishop JR, Sangkuhl K, et al. Clinical Pharmacogenetics Implementation Consortium Guideline for Cytochrome P450 (CYP)2D6 Genotype and Atomoxetine Therapy Clin Pharmacol Ther, 2019.PMID 30801677
- [12]Hiemke C, Bergemann N, Clement HW, et al. Consensus Guidelines for Therapeutic Drug Monitoring in Neuropsychopharmacology: Update 2017 Pharmacopsychiatry, 2018.PMID 29390205
- [13]Brown LC, Stanton JD, Bharthi K, et al. Pharmacogenomic Testing and Depressive Symptom Remission: A Systematic Review and Meta-Analysis of Prospective, Controlled Clinical Trials Clin Pharmacol Ther, 2022.PMID 36111494
- [14]Rosenblat JD, Lee Y, McIntyre RS Does Pharmacogenomic Testing Improve Clinical Outcomes for Major Depressive Disorder? A Systematic Review of Clinical Trials and Cost-Effectiveness Studies J Clin Psychiatry, 2017.PMID 28068459
- [15]Michelson D, Read HA, Ruff DD, et al. CYP2D6 and clinical response to atomoxetine in children and adolescents with ADHD J Am Acad Child Adolesc Psychiatry, 2007.PMID 17242628
- [16]Whirl-Carrillo M, McDonagh EM, Hebert JM, et al. Pharmacogenomics knowledge for personalized medicine Clin Pharmacol Ther, 2012.PMID 22992668