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临床 CYP2C19 基因分型等位基因选择建议:分子病理学协会的报告。

Recommendations for Clinical CYP2C19 Genotyping Allele Selection: A Report of the Association for Molecular Pathology.

机构信息

Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

Pharmacogenomics Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Bethesda, Maryland; Millennium Health, LLC, San Diego, California.

出版信息

J Mol Diagn. 2018 May;20(3):269-276. doi: 10.1016/j.jmoldx.2018.01.011. Epub 2018 Feb 21.

Abstract

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.

摘要

本文件由分子病理学协会临床实践委员会的药物基因组学 (PGx) 工作组制定,其目的是推荐纳入临床药物基因组学检测面板的变异体。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,并定义临床药物基因组学基因分型检测中应包含的最小变异体集。这些建议包括一个最小的变异等位基因(第 1 层)和一个扩展的变异等位基因(第 2 层)面板,这将有助于临床实验室在设计 PGx 检测时。工作组在制定这些建议时考虑了不同人群和种族的变异等位基因频率、参考材料的可用性以及其他药物基因组学检测的技术考虑因素。这些 CYP2C19 基因分型建议是一系列药物基因组学检测建议中的第一项。这些建议不应被解释为限制,但它们旨在提供有用的指导。

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