欢迎访问《中国临床药理学与治疗学》杂志官方网站,今天是

中国临床药理学与治疗学 ›› 2022, Vol. 27 ›› Issue (3): 274-280.doi: 10.12092/j.issn.1009-2501.2022.03.005

• 临床药理学 • 上一篇    下一篇

个体化用药基因电子身份应用程序的设计与实现

孙媛媛1,邓锟红1,王思懿1,3,况 赟1,邹 婵1,郭成贤1,何庆南2,刘和林4,阳国平1   

  1. 1中南大学湘雅三医院临床药理中心,长沙 410013,湖南;2中南大学湘雅三医院,长沙 410013,湖南;3中南大学湘雅药学院,长沙 410013,湖南;4湖南云视数据科技有限责任公司,长沙 410013,湖南

  • 收稿日期:2021-12-29 修回日期:2022-03-06 出版日期:2022-03-26 发布日期:2022-04-11
  • 通讯作者: 阳国平,男,教授,博士生导师,主要从事临床药理学与药代动力学研究。 Tel: 0731-88618933 E-mail: ygp9880@126.com
  • 作者简介:孙媛媛,女,硕士研究生,主要从事临床药理学与药代动力学研究。 Tel: 0731-88618933 E-mail: syy09826@163.com
  • 基金资助:
    国家科技重大专项基金资助项目(2020ZX09201010)

Design and implementation of electronic identity application for gene-directed personalized medicine

SUN Yuanyuan1, DENG Kunhong1, WANG Siyi1,3, KUANG Yun1, ZOU Chan1, GUO Chengxian1, HE Qingnan2, LIU Helin4, YANG Guoping1   

  1. 1Center of Clinical Pharmacology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan, China; 2The Third Xiangya Hospital of Central South University, Changsha 410013, Hunan, China; XiangYa School of Pharmaceutical Sciences, Central South University, Changsha 410013, Hunan, China; See Data Technology Corporation, Changsha 410013, Hunan, China
  • Received:2021-12-29 Revised:2022-03-06 Online:2022-03-26 Published:2022-04-11

摘要: 目的:为跨过药物基因组学基础研究至临床便捷应用的鸿沟,作者提出了基因电子身份(形象称之为“基因脸谱”)概念,并基于此开发了一款集“基因-药物”信息解读、用药指导等于一体的个体化用药基因电子身份应用程序(即“基因脸谱”)。方法:“基因脸谱”以自主开发的“精准用药知识库”为数据基础,采用Java平台上的开源应用框架Spring Boot及Uni-APP跨平台技术构建APP,该知识库内容取自目前证据级别高的药品说明书、指南或重要文献等。结果:“基因脸谱”APP具有基因检测预约、基因知识介绍、个体化用药建议、用药记录、基因脸谱解读和精准用药知识库六大功能。个人通过一次检测300多个基因位点的基因型,结果导入形成个人用药基因“身份证”。用药时,通过“基因脸谱”扫描或输入药物名称,自动给出针对个人的用药建议,包括:可能出现的药物不良反应风险、可能疗效降低甚至无效的风险、可能需要调整剂量等,为安全用药增加一道基因防线;通过“基因脸谱”还可获取药物基因组学知识和药品基本信息。结论:基因脸谱是一款可快速实现药物基因组学到临床应用、可提高用药安全度的数字疗法产品,将开启促进个体化医学加速落地临床的新模式。

关键词: 个体化用药, 药物基因组学, APP, 基因脸谱

Abstract: AIM: In order to bridge the gap between pharmacogenomic research and its clinical application, we propose the concept of genetic electronic identity, named "GeneFace", and developed an electronic information system which integrated "drug-gene" interactions and recommendations for personalized medicine.  METHODS: Based on the self-developed Precision Medicine knowledgebase, which concludes drug directions, guidelines or important literatures with high level of evidence, we developed GeneFace with Java-based open-resource application framework Spring Boot, further developed a mobile App with cross-platform framework Uni-APP. RESULTS: The App includes six modules: genetic testing appointment, genetic knowledge introduction, individualized medication advice, medication records, Geneface interpretation, and Precision Medicine knowledgebase. By detecting the genotype of more than 300 gene loci upon first use, users import the results to form a personal "drug-gene identity card". Then scan or enter the drug name in "GeneFace", the App would automatically give corresponding medication recommendations, including: risks for possible adverse drug reactions, risks for reducing the efficacy or even ineffectiveness, and possibility for dose adjustment, etc., which increase the safety of clinical drug use. People can obtain pharmacogenomics knowledge and basic drug information in the "GeneFace" app. CONCLUSION: Development as a digital therapeutic product, the expanded application of GeneFace can rapidly promote clinical applications of basic pharmacogenomics research and significantly improve drug use safety, which creating a new model for accelerating the clinical application of personalized medicine.

Key words: personalized medicine, pharmacogenomics, APP, GeneFace

中图分类号: