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药物遗传学:从实验室到字节

Pharmacogenetics: from bench to byte.

作者信息

Swen J J, Wilting I, de Goede A L, Grandia L, Mulder H, Touw D J, de Boer A, Conemans J M H, Egberts T C G, Klungel O H, Koopmans R, van der Weide J, Wilffert B, Guchelaar H-J, Deneer V H M

机构信息

Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Clin Pharmacol Ther. 2008 May;83(5):781-7. doi: 10.1038/sj.clpt.6100507. Epub 2008 Feb 6.

Abstract

Despite initial enthusiasm, the use of pharmacogenetics has remained limited to investigation in only a few clinical fields such as oncology and psychiatry. The main reason is the paucity of scientific evidence to show that pharmacogenetic testing leads to improved clinical outcomes. Moreover, for most pharmacogenetic tests (such as tests for genetic variants of cytochrome P450 enzymes) a detailed knowledge of pharmacology is a prerequisite for application in clinical practice, and both physicians and pharmacists might find it difficult to interpret the clinical value of pharmacogenetic test results. Guidelines that link the result of a pharmacogenetic test to therapeutic recommendations might help to overcome these problems, but such guidelines are only sparsely available. In 2001, an early step was taken to develop such guidelines for the therapeutic use of antidepressants, and these included CYP2D6-related dose recommendations drawn from pharmacokinetic study data. However, the use of such recommendations in routine clinical practice remains difficult, because they are currently outside the ambit of the clinical environment and are not accessible during the decision-making process by physicians and pharmacists, namely the prescription and dispensing of drugs.

摘要

尽管最初热情高涨,但药物遗传学的应用仍仅限于肿瘤学和精神病学等少数临床领域的研究。主要原因是缺乏科学证据表明药物遗传学检测能改善临床疗效。此外,对于大多数药物遗传学检测(如细胞色素P450酶基因变异检测),药理学的详细知识是临床应用的先决条件,医生和药剂师可能都难以解读药物遗传学检测结果的临床价值。将药物遗传学检测结果与治疗建议相联系的指南可能有助于克服这些问题,但此类指南非常少见。2001年,在制定抗抑郁药治疗指南方面迈出了早期步伐,其中包括从药代动力学研究数据得出的与CYP2D6相关的剂量建议。然而,在常规临床实践中使用此类建议仍然困难,因为它们目前不在临床环境范围内,医生和药剂师在决策过程(即药物处方和配药)中无法获取。

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