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

被引:154
作者
Pratt, Victoria M. [1 ,2 ]
Del Tredici, Andria L. [1 ,3 ]
Hachad, Houda [1 ,4 ]
Ji, Yuan [1 ,5 ,6 ]
Kalman, Lisa V. [1 ,7 ]
Scott, Stuart A. [1 ,8 ,9 ]
Weck, Karen E. [1 ,10 ,11 ]
机构
[1] Assoc Mol Pathol, Clin Practice Comm, Pharmacogen Working Grp, Bethesda, MD USA
[2] Indiana Univ Sch Med, Dept Med & Mol Genet, 550 N Univ Dr,AOC 6029, Indianapolis, IN 46202 USA
[3] Millennium Hlth LLC, San Diego, CA USA
[4] Translat Software, Bellevue, WA USA
[5] Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT USA
[6] Univ Utah, Sch Med, ARUP Labs, Salt Lake City, UT USA
[7] Ctr Dis Control & Prevent, Div Lab Syst, Atlanta, GA USA
[8] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA
[9] Sema4, Stamford, CT USA
[10] Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC USA
[11] Univ N Carolina, Dept Genet, Chapel Hill, NC USA
关键词
PHARMACOGENETICS IMPLEMENTATION CONSORTIUM; DNA REFERENCE MATERIALS; COLLABORATIVE-PROJECT; POLYMORPHISM; METABOLISM; CYP2D6; GUIDELINES; INHIBITORS; UPDATE; GENES;
D O I
10.1016/j.jmoldx.2018.01.011
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
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.
引用
收藏
页码:269 / 276
页数:8
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