articleClinical and Translational ScienceOct 24, 2019GOLD OA

Standardizing CYP 2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group

KEKelly E. CaudleKSKatrin SangkuhlMWMichelle Whirl‐CarrilloJJJesse J. SwenCECyrine E. Haidar

St. Jude Children's Research Hospital · Stanford University · +7 more institutions

PubMed
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Abstract

Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines, such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG). The genotype to phenotype translation discordance between laboratories and guidelines can cause discordant cytochrome P450 2D6 (CYP2D6) phenotype assignments and, thus lead to inconsistent therapeutic recommendations and confusion among patients and clinicians. A modified-Delphi method was used to obtain consensus for a uniform system for translating CYP2D6 genotype to phenotype among a panel of international…

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Topics & keywords

Topics
Keywords
  • Pharmacogenetics
  • Genotype
  • CYP2D6
  • Genotype-phenotype distinction
  • Medicine
  • Genetic testing
  • Pharmacology
  • Bioinformatics
UN Sustainable Development Goals
  • Partnerships for the goals
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