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Pharmacogenetics and individualized medicine – bridging the gap between pharmacogenetic research and the patient

机译:药物遗传学和个体化医学–弥合药物遗传学研究与患者之间的鸿沟

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摘要

A considerable component of the variability seen in drug response or drug disposition has been explained by pharmacogenetic factors. Thus, diagnosing inherited variability in molecules involved in drug response may help to optimize drug therapy and provide more individualized treatment. However, despite the availability of a large amount of pharmacogenetic research data, there are still only a few examples of genotyping being incorporated into clinical drug therapy. In order to bridge the gap between pharmacogenetic research and clinical application, the unequivocal proof of the benefit of pharmacogenetic diagnostics in a certain drug therapy is warranted. But this is not all; there is a clear need for research results to be translated into clinically adoptable guidelines or, when this is not possible, more appropriately designed studies should be conducted with the aim of applying the data in the clinic. Furthermore, more education on pharmacogenetics and the genetic mechanisms underlying interindividual variability in disease susceptibility, treatment course and treatment response should be provided. As a third point, an infrastructure for genetic testing has to be established and this should not only include valid methods for genetic analyses, but especially the logistics of sample shipping, clear indications and instructions for blood sampling from patients, and valid interpretation and communication of the results. Thus, in order to routinely apply pharmacogenetic testing in drug therapy, several concrete steps have to be undertaken, in addition to the optimization of research studies.
机译:在药物反应或药物配置中观察到的变异性的相当大的部分已由药理遗传学因素解释。因此,诊断涉及药物反应的分子的遗传变异性可能有助于优化药物治疗并提供更个性化的治疗。然而,尽管可获得大量的药物遗传学研究数据,但仍仅有少数基因分型的实例被纳入临床药物治疗。为了弥合药物遗传学研究与临床应用之间的差距,必须明确证明药物遗传学诊断在某些药物治疗中的益处。但这并不是全部;显然需要将研究结果转化为可在临床上采用的指南,或者,如果不可能,应进行更适当设计的研究,以期将数据应用到临床中。此外,应提供有关药物遗传学和疾病易感性,治疗过程和治疗反应之间个体差异的遗传机制的更多教育。第三点,必须建立基因检测的基础设施,这不仅应包括基因分析的有效方法,而且还应包括样品运输的后勤,对患者血液采样的明确指示和说明,以及对患者血液的有效解释和交流。结果。因此,为了在药物治疗中常规应用药物遗传学检测,除了优化研究之外,还必须采取几个具体步骤。

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