医疗机构多组学自制试剂实验室的建设实践与思考

Practice and Reflections on the Construction of Multi-Omic Developed Test Laboratory in Medical Institutions

实验室自制试剂(laboratory-developed test,LDT)是指由实验室内部开发使用、不需要经过商业注册的体外诊断试剂(in vitro diagnostic medical devices,IVDs)。自制试剂涉及技术广泛,如高通量测序技术、质谱技术、流式细胞分析技术等,能够结合基因组学、转录组学、蛋白质组学、代谢组学等多种组学技术,成为研究遗传病生理病理机制的重要技术方法。中日友好医院被指定为我国10家自行研制使用体外诊断试剂的试点医疗机构之一,率先开展多组学自制试剂实验室建设。本文对医疗机构建设多组学自制试剂实验室的必要性、建设实践和运行风险等进行阐述。

Laboratory-developed test(LDT)refers to in vitro diagnostic medical devices(IVDs)developed and used internally within the laboratory,requiring no commercial registration.LDTs involve a wide range of technologies such as highthroughput sequencing,mass spectrometry,flow cytometry,and bring together various omics technologies such as genomics,transcriptomics,proteomics,and metabolomics.They have become an important technical approach for understanding the pathophysiological mechanisms of genetic diseases.China-Japan Friendship Hospital,designated as one of the ten pilot medical institutions for LDTs in China,has taken the lead in constructing a laboratory for multi-omics LDTs.This article elaborates on the necessity,practices,and operational risks of building a laboratory for multi-omics LDTs in a medical institution.