DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.
Document Type
Article
Publication Date
10-2024
Identifier
DOI: 10.1016/j.jmoldx.2024.05.015
Abstract
The goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum set of variant alleles (tier 1) and an extended list of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered the functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. The goal of this Working Group is to promote standardization of PGx testing across clinical laboratories. This document will focus on clinical DPYD PGx testing that may be applied to all dihydropyrimidine dehydrogenase-related medications. These recommendations are not to be interpreted as prescriptive but to provide a reference guide.
Journal Title
The Journal of molecular diagnostics : JMD
Volume
26
Issue
10
First Page
851
Last Page
863
MeSH Keywords
Humans; Dihydrouracil Dehydrogenase (NADP); Pharmacogenetics; Precision Medicine; Genotype; Knowledge Bases; Consensus; Pharmacogenomic Testing; Alleles; Genotyping Techniques
Keywords
Dihydrouracil Dehydrogenase (NADP); Pharmacogenetics; Precision Medicine; Genotype; Knowledge Bases; Consensus; Pharmacogenomic Testing; Alleles; Genotyping Techniques
Recommended Citation
Pratt VM, Cavallari LH, Fulmer ML, et al. DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium. J Mol Diagn. 2024;26(10):851-863. doi:10.1016/j.jmoldx.2024.05.015
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