Nine-gene pharmacogenomics profile service: The Mayo Clinic experience

IF 2.9 3区医学 Q2 GENETICS & HEREDITY

Pharmacogenomics Journal Pub Date : 2021-10-20 DOI:10.1038/s41397-021-00258-0

Eric T. Matey, Ashley Kate Ragan, Lance J. Oyen, Carolyn R. Vitek, Stacy L. Aoudia, Ahmed K. Ragab, Kelliann C. Fee-Schroeder, John L. Black, Ann M. Moyer, Wayne T. Nicholson, Sofia Shrestha, Tammy M. McAllister, Jason P. Sinnwell, Stephanie S. Faubion, Konstantinos N. Lazaridis

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引用次数: 9

Abstract

The Pharmacogenomics (PGx) Profile Service was a proof-of-concept project to implement PGx in patient care at Mayo Clinic. Eighty-two healthy individuals aged 18 and older underwent genotyping of CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, SLCO1B1, HLA-B*58:01, and VKORC1. A PGx pharmacist was involved in ordering, meeting with patients, interpreting, reviewing, and documenting results. Ninety three percent were CYP1A2 rapid metabolizers, 92% CYP3A4 normal metabolizers, and 88% CYP3A5 poor metabolizers; phenotype frequencies for CYP2C19 and CYP2D6 varied. Seventy-three percent had normal functioning SLCO1B1 transporter, 4% carried the HLA-B*58:01 risk variant, and 35% carried VKORC1 and CYP2C9 variants that increased warfarin sensitivity. Pre-emptive PGx testing offered medication improvement opportunity in 56% of participants for commonly used medications. A collaborative approach involving a PGx pharmacist integrated within a clinical practice with regards to utility of PGx results allowed for implementation of the PGx Profile Service.

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九基因药物基因组学档案服务：梅奥诊所的经验

药物基因组学（PGx）档案服务是梅奥诊所在患者护理中实施 PGx 的一个概念验证项目。82 名 18 岁及以上的健康人接受了 CYP1A2、CYP2C9、CYP2C19、CYP2D6、CYP3A4、CYP3A5、SLCO1B1、HLA-B*58:01 和 VKORC1 的基因分型。一名 PGx 药剂师参与了下单、与患者会面、解释、审核和记录结果等工作。93%的患者为 CYP1A2 快速代谢者，92%为 CYP3A4 正常代谢者，88%为 CYP3A5 不良代谢者；CYP2C19 和 CYP2D6 的表型频率各不相同。73%的患者SLCO1B1转运体功能正常，4%携带HLA-B*58:01风险变体，35%携带可增加华法林敏感性的VKORC1和CYP2C9变体。56% 的参与者通过先期 PGx 检测获得了改善常用药物治疗的机会。PGx药剂师与临床实践中的PGx药剂师就PGx结果的效用进行了合作，从而使PGx简介服务得以实施。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pharmacogenomics Journal 医学-药学

CiteScore

7.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Pharmacogenomics Journal is a print and electronic journal, which is dedicated to the rapid publication of original research on pharmacogenomics and its clinical applications. Key areas of coverage include: Personalized medicine Effects of genetic variability on drug toxicity and efficacy Identification and functional characterization of polymorphisms relevant to drug action Pharmacodynamic and pharmacokinetic variations and drug efficacy Integration of new developments in the genome project and proteomics into clinical medicine, pharmacology, and therapeutics Clinical applications of genomic science Identification of novel genomic targets for drug development Potential benefits of pharmacogenomics.