采用回顾性数据库进行罕见病相关研究之可行性思考

Considerations on the feasibility of using retrospective database in the study of rare diseases

回顾性数据库是真实世界研究的数据来源之一,具有样本量丰富、信息量大、多维度等优势,可对多种类型的定量研究提供支持。一方面,罕见疾病具有患病人数少、发病机制不明确等特点。另一方面,中国缺少关于罕见疾病的流行病学调查,为罕见病药物研发及经济性评估带来了挑战。本文简述了回顾性数据库的特点,并以医保管理数据和电子病历为例,讨论了利用此类数据开展罕见病流行病学研究和经济学评估在方法和应用上的可行性。对研究设计时需要预先明确的问题做出了列举和讨论,并针对罕见病的特点提出研究开展建议,为后续使用回顾性数据开展实际的罕见病相关研究提供参考。

Retrospective database is one of the data sources of real-world study,which has the advantages of abundant sample size,large amount of information and multi-dimension,and can support many types of quantitative research.On the one hand,rare diseases have the characteristics of low prevalence and the pathogenesis is unclear sometimes.On the other hand,the lack of epidemiological investigation of rare diseases in China poses a challenge in the development and economic evaluation of rare disease drugs.This paper briefly describes the characteristics of the retrospective database,and takes the health administrative data and electronic medical record as examples.Then,we discuss the feasibility of using such data to carry out epidemiological research and economic evaluation of rare diseases.Furthermore,we clarify some specific key points worth mentioning in advance in terms of study designs and protocols.Lastly,we provide a reference for the subsequent use of retrospective data in conducting practical research.