TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, 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, and Pharmacogenomics Knowledgebase.
Document Type
Article
Publication Date
10-2022
Identifier
DOI: 10.1016/j.jmoldx.2022.06.007
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 article provides recommendations for a minimum panel of variant alleles (Tier 1) and an extended panel 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, as well as other technical considerations for PGx testing when developing these recommendations. The ultimate goal of this Working Group is to promote standardization of PGx gene/allele testing across clinical laboratories. This article focuses on clinical TPMT and NUDT15 PGx testing, which may be applied to all thiopurine S-methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15)-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
24
Issue
10
First Page
1051
Last Page
1063
MeSH Keywords
Consensus; Genotype; Humans; Knowledge Bases; Methyltransferases; Pathologists; Pathology, Molecular; Pharmacists; Pharmacogenetics; Pyrophosphatases
Keywords
Consensus; Genotype; Humans; Knowledge Bases; Methyltransferases; Pathologists; Pathology, Molecular; Pharmacists; Pharmacogenetics; Pyrophosphatases
Recommended Citation
Pratt VM, Cavallari LH, Fulmer ML, et al. TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, 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, and Pharmacogenomics Knowledgebase. J Mol Diagn. 2022;24(10):1051-1063. doi:10.1016/j.jmoldx.2022.06.007
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