Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.
Pharmacogenetics: An Important Part of Drug Development with A Focus on Its Application.
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DOI：
10.31531/2581-4745.1000111
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发表时间：
2018-01-01
期刊：
影响因子：
--
通讯作者：
Lopez, D
中科院分区：
文献类型：
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作者：
Oates, J T;Lopez, D
自2003年人类基因组计划启动以来，个体化医学在分子水平上改善诊断和治疗疾病的观点变得更加真实的。人类基因组测序在医学上带来了一些好处，例如早期发现具有遗传倾向的疾病，治疗罕见疾病，设计基因疗法以及了解药物代谢中的药物遗传学。这篇综述解释了药物遗传学、多态性、突变、变异和等位基因的概念，以及这些信息如何帮助我们更好地理解药物的代谢。多种资源提出，以促进减少科学家，医生和患者之间的差距差距，在了解药物遗传学的使用和效益。讨论了遗传变异的一些最常见的临床实例以及如何使用药物遗传学来确定具有这些变异的患者的治疗方案。最后，我们评估了在临床环境中实施药物遗传学的一些挑战，并提出了使药物遗传学成为个性化医疗标准诊断工具所需采取的行动。
Since the human genome project in 2003, the view of personalized medicine to improve diagnosis and cure diseases at the molecular level became more real. Sequencing the human genome brought some benefits in medicine such as early detection of diseases with a genetic predisposition, treating patients with rare diseases, the design of gene therapy and the understanding of pharmacogenetics in the metabolism of drugs. This review explains the concepts of pharmacogenetics, polymorphisms, mutations, variations, and alleles, and how this information has helped us better understand the metabolism of drugs. Multiple resources are presented to promote reducing the gap between scientists, physicians, and patients in understanding the use and benefits of pharmacogenetics. Some of the most common clinical examples of genetic variants and how pharmacogenetics was used to determine treatment options for patients having these variants were discussed. Finally, we evaluated some of the challenges of implementing pharmacogenetics in a clinical setting and proposed actions to be taken to make pharmacogenetics a standard diagnostic tool in personalized medicine.