药物基因组学：指导常规用药的精准工具

Pharmacogenomics: precision tool in routine prescription

摘要:

药物基因组学是指导常规用药的新兴工具，其目的是通过药物作用（药效学）和药物浓度（药代动力学）相关基因的分析来提高药物治疗的有效性和安全性。目前需要将基因组数据整合到日常治疗的效益与风险评估之中，让因人而异的个体化治疗成为现实。同时走出尝试、观察和调整的传统框架，防止无效治疗，合理用量，规避药物不良反应。由于儿科患者的特殊性，药物基因组学对其影响更为广泛，并可加强医患之间的互信，提高药物治疗的依从性。希望临床医生勇于接纳迅速发展的药物基因组学，深入研究与祖先相关的基因变异，推动针对特殊族群的精准医学发展。通过在临床一线的应用，让患者能尽早地、更多地享受药物基因组学发展的成果。

Abstract:

Pharmacogenomics is an emerging tool to improve the efficacy and safety of drug treatment through the DNA analysis in the genes related to drug concentrations (pharmacokinetics) and drug actions (pharmacodynamics). Clinicians need to integrate the genomic data in their benefit-risk assessment and then provide the right drug to the right patient at the right time. This tool can help to prevent an ineffective treatment, select right dose and reduce adverse drug reactions that are common in the current practice under the trial-observation-adjustment model. Pharmacogenomics may have extensive impacts on unique paediatric patients to enhance a better relationship between medical professionals and affected children or their guardians and to improve the drug compliance. Clinicians should embrace the advancements in pharmacogenomics and actively participate in clinical research to identify the ancestor-related alleles and develop the population-specific gene panel. It will allow patients to enjoy more achievements in pharmacogenomics by implementing it in first line clinical practice.