药物基因组学:个性化医疗

María Pierna Álvarez , Elena Marcos-Vadillo , Belén García-Berrocal , María Isidoro-García
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引用次数: 1

摘要

药物基因组学(PGx)的主要目标是根据每个患者的遗传特征确定个性化的药物治疗。因此,以疾病为中心的经典临床治疗范式正在成为一种新的方法——个性化医疗。参与药物药代动力学和药效学的酶和蛋白质的表达和功能可以被遗传多态性所改变。因此,等位基因变异的存在可以预测药理学反应,保证治疗的有效性和安全性。目前,有两种不同的方法描述了PGx的临床应用,通过这些变异鉴定:候选基因分析和全基因组关联研究。尽管提高了治疗的有效性、安全性和成本效益,但由于一系列障碍以及可能的解决方案,PGx的临床实施已经放缓。
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Farmacogenómica: la medicina personalizada

The main objective of pharmacogenomics (PGx) is defining an individualized pharmacological treatment based on the genetic profile of each patient. Thus, the classical paradigm of clinical treatment focused on the disease is becoming a new approach, Personalized Medicine. The expression and function of enzymes and proteins involved in the drug pharmacokinetics and pharmacodynamics can be modified by genetic polymorphisms. Thereby, the presence of allelic variants allows predicting the pharmacological response guaranteeing the treatment efficacy and safety.

Nowadays, two different approaches have been described for the clinical application of PGx by these variants identification: candidate gene analysis and genome wide association studies. Despite improving the effectiveness, safety and cost-effectiveness of treatments, the PGx clinical implementation has slowed down due to a series of barriers that will be reviewed in this work, as well as their possible solutions.

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