Title

DPYD Genotyping Recommendations

Authoring Organization

Association for Molecular Pathology

Endorsing Organizations

American College of Medical Genetics and Genomics

College of American Pathologists

Publication Month/Year

July 17, 2024

Last Updated Month/Year

September 11, 2024

Document Type

Consensus

Country of Publication

US

Document Objectives

The goals of the Association for Molecular Pathology (AMP) 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 AMP 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 DPD-related medications. These recommendations are not to be interpreted as prescriptive but to provide a reference guide.

Inclusion Criteria

Male, Female, Adolescent, Adult, Child, Infant, Older adult

Health Care Settings

Ambulatory, Laboratory services

Intended Users

Genetics, laboratory technician, nurse, nurse practitioner, physician, physician assistant

Scope

Assessment and screening

Keywords

Clinical PGx testing, PGx, Clinical pharmacogenomic tests, DPYD

Source Citation

Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, Turner AJ, van Schaik RHN, Whirl-Carrillo M, Weck KE. 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 Jul 18:S1525-1578(24)00154-5. doi: 10.1016/j.jmoldx.2024.05.015. Epub ahead of print. PMID: 39032821.