Recommendations for Clinical CYP2C19 Genotyping Allele Selection A Report of the Association for Molecular Pathology
Recommendations for Clinical CYP2C19 Genotyping Allele Selection A Report of the Association for Molecular Pathology
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DOI：
10.1016/j.jmoldx.2018.01.011
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发表时间：
2018-05-01
影响因子：
4.1
通讯作者：
Weck, Karen E.
中科院分区：
文献类型：
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作者：
Pratt, Victoria M.;Del Tredici, Andria L.;Weck, Karen E.
本文件由分子病理学协会临床实践委员会药物基因组学（PGx）工作组编写，其目的是推荐纳入临床药物基因组学检测组的变体。分子病理学协会PGx工作组的目标是定义推荐用于临床检测的PGx等位基因的关键属性，并定义临床PGx基因分型检测中应包含的最小变异集。这些建议包括变异等位基因的最小组（第1级）和变异等位基因的扩展组（第2级），这将有助于临床实验室设计PGx检测试剂盒。工作组在制定这些建议时考虑了不同人群和种族中的变异等位基因频率、参考材料的可用性以及PGx检测的其他技术考虑因素。这些CYP2C19基因分型建议是PGx检测的一系列建议中的第一个。这些建议不应被解释为具有限制性，而是旨在提供有益的指导。
This document was developed by the Pharmacogenomics (PGx) Working Group of the Association for Molecular Pathology Clinical Practice Committee, whose aim is to recommend variants for inclusion in clinical pharmacogenomic testing panels. The goals of the Association for Molecular Pathology PGx Working Group are to define the key attributes of PGx alleles recommended for clinical testing and to define a minimum set of variants that should be included in clinical PGx genotyping assays. These recommendations include a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing PGx assays. The Working Group considered variant allele frequencies in different populations and ethnicities, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations. These CYP2C19 genotyping recommendations are the first of a series of recommendations for PGx testing. These recommendations are not to be interpreted as restrictive, but they are meant to provide a helpful guide.