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Review
. 2024 Oct;26(10):851-863.
doi: 10.1016/j.jmoldx.2024.05.015. Epub 2024 Jul 18.

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

Victoria M Pratt  1 , Larisa H Cavallari  2 , Makenzie L Fulmer  3 , Andrea Gaedigk  4 , Houda Hachad  5 , Yuan Ji  3 , Lisa V Kalman  6 , Reynold C Ly  7 , Ann M Moyer  8 , Stuart A Scott  9 , Amy J Turner  10 , Ron H N van Schaik  11 , Michelle Whirl-Carrillo  12 , Karen E Weck  13
Affiliations
Review

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

Victoria M Pratt et al. J Mol Diagn. 2024 Oct.

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.

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Conflict of interest statement

Disclosure Statement The University of North Carolina Medical Genetics Laboratory, RPRD Diagnostics, AccessDx Laboratory, and the Stanford Medicine Clinical Genomics Laboratory are fee-for-service clinical laboratories that offer clinical pharmacogenomic testing. V.M.P. is the director of Scientific Affairs for Agena Bioscience, is a member of the Pharmacogene Variation Consortium (PharmVar) Steering Committee and PharmVar CYP2C and CYP3A Gene Expert Panels, and is the Association for Molecular Pathology liaison to the National Academy of Medicine Roundtable on Genomics and Precision Health. L.H.C. is supported by NIH/National Human Genome Research Institute (NHGRI) grant U01 HG007269 and NIH/National Center for Advancing Translational Sciences grant UL1 TR001427 and serves on the Clinical Pharmacogenetics Implementation Consortium (CPIC) steering committee. A.G. is the director of PharmVar, a member of CPIC, and a member of the CPIC and Pharmacogenomics Clinical Annotation Tool Scientific Advisory Boards. H.H. is an employee of AccessDx Holdings and serves on the CPIC Scientific Advisory Board and on the PharmVar CYP2D6 Gene Expert Panel. Y.J. serves as the Vice Chair of the American College of Medical Genetics and Genomics (ACMG) Membership Committee. R.C.L. is a member of the PharmVar CYP2D6 Gene Expert Panel. A.M.M. is a member of the College of American Pathologists (CAP)/ACMG Biochemical and Molecular Genetics Committee and Pharmacogenetics Workgroup, the PharmVar CYP2D6 Gene Expert Panel, the ClinGen Pharmacogenomics (PGx) Working Group, and the ClinPGx Scientific Advisory Board. S.A.S. serves on the steering committees of CPIC and PharmVar and is a member of the PharmVar CYP2C Gene Expert Panel. A.J.T.'s efforts are supported in part by RPRD Diagnostics, an independent clinical laboratory offering pharmacogenetic testing services; she also serves on the PharmVar CYP1A2, CYP2D6, DPYD, and NUDT15 Gene Expert Panels. R.H.N.v.S. is a member of the Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, is a board member and past president of the European Society for Pharmacogenomics and Personalized Therapy, serves on the PharmVar CYP3A Gene Expert Panel, and is a member of the CPIC Scientific Advisory Board. M.W.-C. is supported by NIH/NHGRI/National Institute of Child Health and Human Development/National Institute on Drug Abuse grant U24 HG010615 and NIH/NHGRI grant U24 HG013077, is a co-investigator of CPIC, is co–principal investigator and director of the Pharmacogenomics Knowledgebase, and serves on the steering committee and multiple Gene Expert Panels for PharmVar. K.E.W. serves as the CAP liaison to the National Academy of Medicine Roundtable on Genomics and Precision Health. The remaining authors have declared no related conflicts of interest.

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