The Wolfson Centre for Personalised Medicine, Department of Pharmacology, University of Liverpool, 1-5 Brownlow Street, Liverpool L693GL, UK.
Drug Discov Today. 2011 Oct;16(19-20):852-61. doi: 10.1016/j.drudis.2011.08.006. Epub 2011 Aug 22.
The subject area of pharmacogenetics, also known as pharmacogenomics, has a long history. Research in this area has led to fundamental discoveries, which have helped our understanding of the reasons why individuals differ in the way they handle drugs, and ultimately in the way they respond to drugs, either in terms of efficacy or toxicity. However, not much of this knowledge has been translated into clinical practice, most drug-gene associations that have some evidence of clinical validity have not progressed to clinical settings. Advances in genomics since 2000, including the ready availability of data on the variability of the human genome, have provided us with unprecedented opportunities to understand variability in drug responses, and the opportunity to incorporate this into patient care. This is only likely to occur with a systematic approach that evaluates and overcomes the different translational gaps in taking a biomarker from discovery to clinical practice. In this article, I explore the history of pharmacogenetics, appraise the current state of research in this area, and finish off with suggestions for progressing in the field in the future.
药物遗传学(也称为药物基因组学)领域有着悠久的历史。该领域的研究取得了重大发现,帮助我们理解了为什么个体在处理药物的方式上存在差异,以及为什么他们对药物的反应(无论是疗效还是毒性)存在差异。然而,这些知识并没有太多转化为临床实践,大多数具有一定临床有效性证据的药物-基因关联尚未进入临床环境。自 2000 年以来,基因组学的进步,包括人类基因组变异数据的广泛可用性,为我们提供了前所未有的机会来理解药物反应的变异性,并将其纳入患者护理中。这只有通过一种系统的方法才能实现,该方法评估并克服了从发现到临床实践中生物标志物的不同转化差距。在本文中,我探讨了药物遗传学的历史,评价了该领域目前的研究状况,并为未来该领域的发展提出了建议。