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评估CPIC指南中涉及的药物基因组学知识对中国儿科患者的临床影响。

Evaluation of clinical impact of pharmacogenomics knowledge involved in CPIC guidelines on Chinese pediatric patients.

作者信息

Qin Weifeng, Du Zhenglin, Xiao Jingfa, Duan Huilong, Shu Qiang, Li Haomin

机构信息

The Children's Hospital, Zhejiang University School of Medicine and National Clinical Research Center for Child Health, Hangzhou 310052, PR China.

College of Biomedical Engineering and Instrument Science, Zhejiang University, Hangzhou 310027, PR China.

出版信息

Pharmacogenomics. 2020 Feb;21(3):209-219. doi: 10.2217/pgs-2019-0153.

Abstract

To evaluate the clinical benefits of implementing pharmacogenomics testing for Chinese pediatric patients.   Based on the drug-gene interactions involved in the Clinical Pharmacogenetics Implementation Consortium guidelines, whole-genome sequencing data from the Chinese Academy of Sciences Precision Medicine Initiative project and the medication data of pediatric patients from a children's hospital, the prevalence of the Chinese population with actionable pharmacogenomic variants was calculated, the prescribing pattern for pediatric patients was analyzed. 37.0% of the drugs involved in the Clinical Pharmacogenetics Implementation Consortium guidelines were used by Chinese pediatric patients, 8.91% inpatients and 0.89% outpatients received at least one pharmacogenomics medication, 1.24% (4803) inpatients and 0.16% (2940) outpatients were estimated to be at high risk of pharmacogenomic-related adverse therapeutic outcomes. Implementing pharmacogenomics testing can improve therapeutic outcomes for many Chinese pediatric patients.

摘要

评估对中国儿科患者实施药物基因组学检测的临床益处。基于临床药物基因组学实施联盟指南中涉及的药物-基因相互作用、中国科学院精准医学计划项目的全基因组测序数据以及一家儿童医院儿科患者的用药数据,计算了中国人群中具有可操作药物基因组学变异的患病率,分析了儿科患者的处方模式。临床药物基因组学实施联盟指南中涉及的药物有37.0%被中国儿科患者使用,8.91%的住院患者和0.89%的门诊患者接受了至少一种药物基因组学药物治疗,估计1.24%(4803名)住院患者和0.16%(2940名)门诊患者有药物基因组学相关不良治疗结局的高风险。实施药物基因组学检测可以改善许多中国儿科患者的治疗结局。

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