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将药物基因组学转化为临床决策:不要让完美成为优秀的敌人。

Translating pharmacogenomics into clinical decisions: do not let the perfect be the enemy of the good.

机构信息

Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.

Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

出版信息

Hum Genomics. 2019 Aug 27;13(1):39. doi: 10.1186/s40246-019-0229-z.

Abstract

The field of pharmacogenomics (PGx) is gradually shifting from the reactive testing of single genes toward the proactive testing of multiple genes to improve treatment outcomes, reduce adverse events, and decrease the burden of unnecessary costs for healthcare systems. Despite the progress in the field of pharmacogenomics, its implementation into routine care has been slow due to several barriers. However, in recent years, the number of studies on the implementation of PGx has increased, all providing a wealth of knowledge on different solutions for overcoming the obstacles that have been emphasized over the past years. This review focuses on some of the challenges faced by these initiatives, the solutions and different approaches for testing that they suggest, and the evidence that they provide regarding the benefits of preemptive PGx testing.

摘要

药物基因组学(PGx)领域正逐渐从针对单个基因的反应性检测转向针对多个基因的主动检测,以改善治疗效果、减少不良事件并降低医疗系统不必要的成本负担。尽管在药物基因组学领域取得了进展,但由于存在多种障碍,其在常规护理中的实施进展缓慢。然而,近年来,有关实施 PGx 的研究数量有所增加,所有这些研究都提供了丰富的知识,涉及过去几年强调的克服障碍的不同解决方案。本综述重点关注这些举措所面临的一些挑战、它们所建议的测试解决方案和不同方法,以及它们提供的关于预先进行 PGx 测试的益处的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2b6c/6712791/cd26b53b69bd/40246_2019_229_Fig1_HTML.jpg

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