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Abstract：
The goals of the Association for Molecular Pathology 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 panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered 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 gene/allele testing across clinical laboratories. This document will focus on clinical CYP3A4 and CYP3A5 PGx testing that may be applied to all CYP3A4- and CYP3A5-related medications. These recommendations are not to be interpreted as prescriptive but to provide a reference guide.
摘要：
分子病理学协会临床实践委员会的药物基因组学（PGx）工作组的目标是定义推荐用于临床试验的药物遗传学等位基因的关键属性，以及临床PGx基因分型分析中应包括的最小变异集。本文档系列提供了最小变体等位基因组（第1层）和扩展变体等位基因组（第2层）的建议，这些建议将在设计PGx测试的测定时帮助临床实验室。分子病理学协会PGx工作组考虑了变异等位基因的功能影响，多种族人群中的等位基因频率，参考材料的可用性，以及在制定这些建议时PGx测试的其他技术注意事项。该工作组的目标是在临床实验室中促进PGx基因/等位基因测试的标准化。本文件将侧重于临床CYP3A4和CYP3A5PGx测试，可能适用于所有CYP3A4和CYP3A5相关药物。这些建议不应被解释为规定性的，而是提供参考指南。
