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从实验室到临床:药物遗传学研究的诊断框架

From bench to bedside: a diagnostics framework for pharmacogenetics research.

作者信息

Katz David A

机构信息

Research Investigator Pharmacogenetics, Abbott Laboratories, 100 Abbott Park Road, R424/AP6A, Abbott Park, IL 60064-6008, USA.

出版信息

Mol Genet Metab. 2002 Sep-Oct;77(1-2):57-60. doi: 10.1016/s1096-7192(02)00143-9.

Abstract

Although many genetic variants have been associated with differential drug responses, a very limited number of pharmacogenetic tests have entered common clinical practice. Pharmacogenetic tests that are successful address unmet medical needs, are clinically relevant, and have sufficient sensitivity, and specificity. In this respect, pharmacogenetics is no different from other diagnostics fields. Unmet medical need, clinical relevance, sensitivity, and specificity are discussed in the context of specific pharmacogenetic associations. These parameters are useful guides for researchers interested in translating pharmacogenetic findings from the bench to the bedside.

摘要

尽管许多基因变异与药物反应差异相关,但进入常规临床实践的药物遗传学检测数量非常有限。成功的药物遗传学检测能够满足未被满足的医疗需求,具有临床相关性,并且具备足够的敏感性和特异性。在这方面,药物遗传学与其他诊断领域并无不同。本文将在特定药物遗传学关联的背景下讨论未被满足的医疗需求、临床相关性、敏感性和特异性。这些参数对于有兴趣将药物遗传学研究成果从实验室转化到临床应用的研究人员而言,是有用的指导。

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