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AMP Releases Guidelines for Standardizing DPYD Genotyping Assays

NextEdge Admin

23 Jul 2024

2 min 23 sec

The Association for Molecular Pathology (AMP) released a report offering recommendations to standardize the design and validation of clinical DPYD genotyping assays. These guidelines, formed through a joint consensus from AMP, the American College of Medical Genetics and Genomics (ACMG), the Clinical Pharmacogenetics Implementation Consortium (CPIC), the College of American Pathologists (CAP), the Dutch Pharmacogenetics Working Group (DPWG), the European Society for Pharmacogenomics and Personalized Therapy (ESPT), the Pharmacogenomics Knowledgebase (PharmGKB), and the Pharmacogene Variation Consortium (PharmVar), aim to ensure appropriate variants are included in DPYD assays.

Developed by the AMP Clinical Practice Committee's Pharmacogenomics Working Group, the report helps identify patients at increased risk for severe fluoropyrimidine-related toxicity, noted Victoria Pratt, co-chair of the working group.

The group used a two-tier categorization system for variant inclusion. Tier 1 variants, recommended for inclusion, have a well-characterized impact on protein function or gene expression, significant minor allele frequency in specific populations, available reference materials for assay validation, and are feasible for clinical labs to test with standard methods. Tier 2 optional variants meet at least one, but not all, of the Tier 1 criteria. The recommendations exclude variants with unknown effects on protein function or gene expression and serve as a reference guide rather than a restrictive list.

When developing these recommendations, the working group evaluated the functional impact of variant alleles, allele frequencies in diverse populations, availability of reference materials, and other technical considerations for PGx testing, according to AMP.