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Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group.
- Source :
-
Clinical and translational science [Clin Transl Sci] 2020 Jan; Vol. 13 (1), pp. 116-124. Date of Electronic Publication: 2019 Oct 24. - Publication Year :
- 2020
-
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 CYP2D6 experts. Experts with diverse involvement in CYP2D6 interpretation (clinicians, researchers, genetic testing laboratorians, and PGx implementers; n = 37) participated in conference calls and surveys. After completion of 7 surveys, a consensus (> 70%) was reached with 82% of the CYP2D6 experts agreeing to the final CYP2D6 genotype to phenotype translation method. Broad adoption of the proposed CYP2D6 genotype to phenotype translation method by guideline developers, such as CPIC and DPWG, and clinical laboratories as well as researchers will result in more consistent interpretation of CYP2D6 genotype.<br /> (© 2019 The Authors. Clinical and Translational Science published by Wiley Periodicals, Inc. on behalf of the American Society for Clinical Pharmacology and Therapeutics.)
- Subjects :
- Alleles
Cytochrome P-450 CYP2D6 metabolism
DNA Copy Number Variations
Delphi Technique
Humans
Netherlands
Polymorphism, Single-Stranded Conformational
Surveys and Questionnaires
Consensus
Cytochrome P-450 CYP2D6 genetics
Genetic Association Studies standards
Pharmacogenomic Testing standards
Subjects
Details
- Language :
- English
- ISSN :
- 1752-8062
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical and translational science
- Publication Type :
- Academic Journal
- Accession number :
- 31647186
- Full Text :
- https://doi.org/10.1111/cts.12692