药物基因组学临床决策支持系统综述

近几年来精准医学成为生物医学的一个热门领域,世界各国都致力于率先在这一领域取得突破性的进展。药物基因组学(PGx),通过基因组学和其他“组学”知识来个性化药物选择和药物使用以避免药物不良反应和最大化药物疗效,是精准医学的重要组成部分,也是目前最有希望在临床上实现日常应用的精准医学领域之一。其中药物基因组学临床决策支持(PGx-CDS)系统,是实现PGx临床应用和知识转化必不可少的工具。目前很多临床医疗机构已经开展PGx服务并部署PGx-CDS系统,同时更多的临床医疗和研究机构正在筹备开展这类服务。对目前已出现并被报道的主要PGx-CDS系统和研究进行文献综述,共涉及11个PGx-CDS系统。通过对这些系统的临床应用场景、系统设计、知识表达、干预方式和应用评估等方面的综合回顾,总结目前PGx-CDS系统的研究进展和发展现状,然后对PGx-CDS系统目前面临的主要挑战和未来发展方向进行讨论,为在国内落地PGx服务和PGx-CDS系统提供借鉴。

Pharmacogenomics Clinical Decision Support System:A Review

In recent years, precision medicine has become an intensively researched issue in the field of biomedicine. Many countries in the world have been endeavoring to make breakthroughs in this field. Pharmacogenomics (PGx) which use of genomics and other “omics” knowledge to individualize drug selection and drug use to avoid adverse drug reactions and to maximize drug efficacy is an important part of precision medicine, as well as one of the most promising parts in the field of precision medicine to realize the clinical routine use of PGx and promote the progress of precision medicine. The pharmacogenomics clinical decision support (PGx-CDS) system is an essential tool for the clinical implementation and knowledge translation of pharmacogenomics. In many clinical institutions, pharmacogenomics services have been successfully implemented along with the deployment of the PGx-CDS system, and many clinical and research institutions are also preparing to conduct these services. In this paper, the main PGx-CDS systems that have been presented and reported in literatures are reviewed, 11 PGx-CDS systems are involved in total. Through a comprehensive review of the clinical application background, system design, knowledge representation, intervention mode and system evaluation aspects of these PGx-CDS systems, the research progress and development status of the current PGx-CDS systems are summarized, and the main challenges and the future development directions of the PGx-CDS system are discussed.