The importance of phenoconversion when using the CYP2D6 genotype in clinical practice

References

• 1. Cavallari LH, Van Driest SL, Prows CA et al. Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing. Genet. Med. 21(10), 2255–2263 (2019).
  MedlineGoogle Scholar
• 2. Gaedigk A. Complexities of CYP2D6 gene analysis and interpretation. Int. Rev. Psychiatry 25(5), 534–553 (2013).
  MedlineGoogle Scholar
• 3. Caudle KE, Dunnenberger HM, Freimuth RR et al. Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC). Genet. Med. 19(2), 215–223 (2017).
  MedlineGoogle Scholar
• 4. Caudle KE, Sangkuhl K, Whirl-Carrillo M et al. Standardizing CYP2D6 genotype to phenotype translation: consensus recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Clin. Transl. Sci. 13(1), 116–124 (2020).
  MedlineGoogle Scholar
• 5. Gaedigk A, Simon SD, Pearce RE, Bradford LD, Kennedy MJ, Leeder JS. The CYP2D6 activity score: translating genotype information into a qualitative measure of phenotype. Clin. Pharmacol. Ther. 83(2), 234–242 (2008).
  Medline CASGoogle Scholar
• 6. Cicali EJ, Elchynski AL, Cook KJ et al. How to integrate CYP2D6 phenoconversion into clinical pharmacogenetics: a tutorial. Clin. Pharmacol. Ther. 110(3), 677–687 (2021).
  MedlineGoogle Scholar
• 7. Klomp SD, Manson ML, Guchelaar HJ, Swen JJ. Phenoconversion of cytochrome P450 metabolism: a systematic review. J. Clin. Med. 9(9), 2890 (2020).
  CASGoogle Scholar
• 8. Shah RR, Smith RL. Addressing phenoconversion: the Achilles' heel of personalized medicine. Br. J. Clin. Pharmacol. 79(2), 222–240 (2015).
  MedlineGoogle Scholar
• 9. Storelli F, Matthey A, Lenglet S, Thomas A, Desmeules J, Daali Y. Impact of CYP2D6 functional allelic variations on phenoconversion and drug–drug interactions. Clin. Pharmacol. Ther. 104(1), 148–157 (2018).
  Medline CASGoogle Scholar
• 10. Cicali EJ, Weitzel KW, Elsey AR et al. Challenges and lessons learned from clinical pharmacogenetic implementation of multiple gene–drug pairs across ambulatory care settings. Genet. Med. 21(10), 2264–2274 (2019).
  MedlineGoogle Scholar
• 11. Knisely MR, Carpenter JS, Draucker CB et al. CYP2D6 drug–gene and drug–drug–gene interactions among patients prescribed pharmacogenetically actionable opioids. Appl. Nurs. Res. 38, 107–110 (2017).
  MedlineGoogle Scholar
• 12. Smith DM, Weitzel KW, Elsey AR et al. CYP2D6-guided opioid therapy improves pain control in CYP2D6 intermediate and poor metabolizers: a pragmatic clinical trial. Genet. Med. 21(8), 1842–1850 (2019).
  Medline CASGoogle Scholar
• 13. 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. 98(2), 127–134 (2015).
  Medline CASGoogle Scholar
• 14. Goetz MP, Sangkuhl K, Guchelaar HJ et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 and tamoxifen therapy. Clin. Pharmacol. Ther. 103(5), 770–777 (2018).
  MedlineGoogle Scholar
• 15. Bell GC, Caudle KE, Whirl-Carrillo M et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6 genotype and use of ondansetron and tropisetron. Clin. Pharmacol. Ther. 102(2), 213–218 (2017).
  Medline CASGoogle Scholar
• 16. 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. 102(1), 37–44 (2017).
  Medline CASGoogle Scholar
• 17. Crews KR, Monte AA, Huddart R et al. Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2D6, OPRM1, and COMT genotypes and select opioid therapy. Clin. Pharmacol. Ther. 110(4), 888–896 (2021).
  Medline CASGoogle Scholar
• 18. 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. 106(1), 94–102 (2019).
  MedlineGoogle Scholar
• 19. Crews KR, Gaedigk A, Dunnenberger HM et al. Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450 2D6 genotype and codeine therapy: 2014 update. Clin. Pharmacol. Ther. 95(4), 376–382 (2014).
  Medline CASGoogle Scholar
• 20. Bousman CA, Wu P, Aitchison KJ, Cheng T. Sequence2Script: a web-based tool for translation of pharmacogenetic data into evidence-based prescribing recommendations. Front. Pharmacol. 12, 636650 (2021).
  Medline CASGoogle Scholar
• 21. Pratt VM, Cavallari LH, Del Tredici AL et al. Recommendations for clinical CYP2D6 genotyping allele selection: a joint consensus recommendation of the Association for Molecular Pathology, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and the European Society for Pharmacogenomics and Personalized Therapy. J. Mol. Diagn. 23(9), 1047–1064 (2021).
  Medline CASGoogle Scholar
• 22. US Food and Drug Administration. Examples of clinical inhibitors for P450-mediated metabolisms (for concomitant use clinical DDI studies and/or drug labeling) (2020). www.fda.gov/drugs/drug-interactions-labeling/drug-development-and-drug-interactions-table-substrates-inhibitors-and-inducers#table3-2
  Google Scholar
• 23. Bedell SE, Jabbour S, Goldberg R et al. Discrepancies in the use of medications: their extent and predictors in an outpatient practice. Arch. Intern. Med. 160(14), 2129–2134 (2000).
  Medline CASGoogle Scholar