J Mol Diagn. 2019 May 7. pii: S1525-1578(18)30594-4. doi: 10.1016/j.jmoldx.2019.04.003. [Epub ahead of print]
Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Pratt VM1, Cavallari LH2, Del Tredici AL3, Hachad H4, Ji Y5, Moyer AM6, Scott SA7, Whirl-Carrillo M8, Weck KE9.
Abstract
The goals of the Association for Molecular Pathology Pharmacogenomics (PGx) Working Group of the Association for Molecular Pathology Clinical Practice Committee are to define the key attributes of PGx alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document 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 CYP2C9 testing. The Working Group considered functional impact of the variants, allele frequencies in different populations and ethnicities, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations. Our goal is to promote standardization of testing PGx genes/allele testing across clinical laboratories. These recommendations are not to be interpreted as restrictive but to provide a reference guide. The current document will focus on CYP2C9 testing that can be applied to all CYP2C9-related medications. A separate recommendation on warfarin PGx testing is being developed to include recommendations on CYP2C9 alleles and additional warfarin sensitivity-associated genes/alleles.
Copyright © 2019. Published by Elsevier Inc.
- PMID:
- 31075510
- DOI:
- 10.1016/j.jmoldx.2019.04.003
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