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基因组医学:为何“相似”的患者会有不同的治疗结果?

Genomic Medicine: Why Do "Similar" Patients Have Different Outcomes?

作者信息

Schwinn Debra, Kleine-Brueggeney Maren, Oganesian Anush

机构信息

Department of Anesthesiology & Pain Medicine, Allan J. Treuer Endowed Professor, Adjunct Professor of Pharmacology and Genome Sciences, Box 356540, University of Washington, Seattle, WA 98195-6540, 206-543-2673,

University of Washington, Resident, Department of Anesthesiology & Pain Therapy, Bern, Switzerland, Department of Anesthesiology & Pain Medicine, Box 356540, University of Washington, Seattle, WA 98195-6540, 206-685-7968,

出版信息

Rev Course Lect. 2012 May;2012:30-34.

Abstract

Genomic variation is an important factor in why supposedly "similar" patients react differently to drugs, have different disease course(s), and varying clinical outcomes. This review provides an update on concepts in modern genomic medicine with an emphasis on clinically relevant study approaches, disease/drug pathway analysis, and recent pharmacogenomic findings. The application of genomic medicine and its importance for rapid diagnosis of disease-causing agents, as well as its clinical application in human disease diagnosis/treatment and in cardiovascular disease are discussed. In addition to direct clinical applications, modern genomic approaches also play an important role in elucidating new mechanisms of disease. Finally, the role of the National Institutes of Health national pharmacogenomics research network in codifying "bench to bedside" translation of genetic results that impact drug therapy will also be discussed.

摘要

基因组变异是为何所谓“相似”的患者对药物反应不同、疾病进程各异以及临床结果存在差异的一个重要因素。本综述提供了现代基因组医学概念的最新情况,重点关注临床相关研究方法、疾病/药物途径分析以及近期的药物基因组学研究结果。讨论了基因组医学的应用及其在快速诊断致病因子方面的重要性,以及其在人类疾病诊断/治疗和心血管疾病中的临床应用。除了直接的临床应用外,现代基因组方法在阐明疾病新机制方面也发挥着重要作用。最后,还将讨论美国国立卫生研究院国家药物基因组学研究网络在将影响药物治疗的基因研究结果从“ bench 到 bedside”进行编码转化方面所起的作用。

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