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.
| Original language | English |
|---|---|
| Pages (from-to) | 1051-1063 |
| Number of pages | 13 |
| Journal | The Journal of molecular diagnostics : JMD |
| Volume | 24 |
| Issue number | 10 |
| Early online date | 2 Aug 2022 |
| DOIs | |
| Publication status | Published - 1 Oct 2022 |
Bibliographical note
Funding Information:Supported exclusively by the Association for Molecular Pathology. Disclosures: The Indiana University School of Medicine Pharmacogenomics Laboratory, University of North Carolina Medical Genetics Laboratory, Mayo Clinic Laboratories, and the Stanford Medicine Clinical Genomics Program are fee-for-service clinical laboratories that offer clinical pharmacogenetic testing. V.M.P. is supported by the Implementing Genomics in Practice (IGNITE) project grant U01 HG010245. L.H.C. is supported by NIH/National Human Genome Research Institute grant U01 HG007269 and NIH/National Center for Advancing Translational Sciences grant UL1 TR001427, and serves on the Steering Committee for the Clinical Pharmacogenetics Implementation Consortium. A.G. is the director of the Pharmacogenetics Variation Consortium. H.H. is an employee of AccessDx and a former employee of Translational Software. A.M.M. is a member of the College of American Pathologists/American College of Medical Genetics and Genomics Biochemical and Molecular Genetics Committee and Pharmacogenetics Workgroup. R.H.N.v.S. is a member of the Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and a Past President of the European Society for Pharmacogenomics and Personalized Therapy. M.W.C. is supported by NIH/National Human Genome Research Institute/National Institute of Child Health and Human Development grant U24 HG010615 and NIH/National Human Genome Research Institute grant U24 HG010135, is a co-investigator of the Clinical Pharmacogenetics Implementation Consortium and co-PI and Director of the Pharmacogenomics Knowledgebase. K.E.W. is supported by NIH/National Human Genome Research Institute grants U01 HG006487-05 and 2R01HD055651-11. The remaining authors have declared no related conflicts of interest.
Funding Information:
Disclosures: The Indiana University School of Medicine Pharmacogenomics Laboratory, University of North Carolina Medical Genetics Laboratory, Mayo Clinic Laboratories, and the Stanford Medicine Clinical Genomics Program are fee-for-service clinical laboratories that offer clinical pharmacogenetic testing. V.M.P. is supported by the Implementing Genomics in Practice (IGNITE) project grant U01 HG010245. L.H.C. is supported by NIH/National Human Genome Research Institute grant U01 HG007269 and NIH/National Center for Advancing Translational Sciences grant UL1 TR001427, and serves on the Steering Committee for the Clinical Pharmacogenetics Implementation Consortium. A.G. is the director of the Pharmacogenetics Variation Consortium. H.H. is an employee of AccessDx and a former employee of Translational Software. A.M.M. is a member of the College of American Pathologists/American College of Medical Genetics and Genomics Biochemical and Molecular Genetics Committee and Pharmacogenetics Workgroup. R.H.N.v.S. is a member of the Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, and a Past President of the European Society for Pharmacogenomics and Personalized Therapy. M.W.C. is supported by NIH/National Human Genome Research Institute/National Institute of Child Health and Human Development grant U24 HG010615 and NIH/National Human Genome Research Institute grant U24 HG010135, is a co-investigator of the Clinical Pharmacogenetics Implementation Consortium and co-PI and Director of the Pharmacogenomics Knowledgebase. K.E.W. is supported by NIH/National Human Genome Research Institute grants U01 HG006487-05 and 2R01HD055651-11. The remaining authors have declared no related conflicts of interest.
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