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药物基因组学与个体化医学:将科学转化为实践。

Pharmacogenomics and individualized medicine: translating science into practice.

机构信息

Department of Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.

出版信息

Clin Pharmacol Ther. 2012 Oct;92(4):467-75. doi: 10.1038/clpt.2012.120. Epub 2012 Sep 5.

Abstract

Research on genes and medications has advanced our understanding of the genetic basis of individual drug responses. The aim of pharmacogenomics is to develop strategies for individualizing therapy for patients, in order to optimize outcome through knowledge of the variability of the human genome and its influence on drug response. Pharmacogenomics research is translational in nature and ranges from discovery of genotype-phenotype relationships to clinical trials that can provide proof of clinical impact. Advances in pharmacogenomics offer significant potential for subsequent clinical application in individual patients; however, the translation of pharmacogenomics research findings into clinical practice has been slow. Key components to successful clinical implementation of pharmacogenomics will include consistent interpretation of pharmacogenomics test results, availability of clinical guidelines for prescribing on the basis of test results, and knowledge-based decision support systems.

摘要

基因和药物的研究进展提高了我们对个体药物反应遗传基础的理解。药物基因组学的目的是为患者制定个体化治疗策略,通过了解人类基因组的变异性及其对药物反应的影响,优化治疗效果。药物基因组学研究具有转化性质,范围从基因型-表型关系的发现到临床试验,临床试验可以提供临床影响的证据。药物基因组学的进步为后续在个体患者中的临床应用提供了巨大的潜力;然而,药物基因组学研究结果向临床实践的转化一直很缓慢。成功将药物基因组学研究结果应用于临床的关键组成部分包括对药物基因组学检测结果的一致解释、根据检测结果制定临床用药指南的可用性,以及基于知识的决策支持系统。

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