个体化用药基因电子身份应用程序的设计与实现

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。

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

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.