罕见病研究数据采集和应用的现状及伦理学思考

Current Status and Ethical Considerations of Data Collection and Application in Rare Disease Research

中国罕见病研究起步较晚,研究资源分散,流行病学、诊疗、用药等相关数据基础薄弱,阻碍了其研究进展。罕见病数据体系是罕见病研究的基础,对罕见病数据收集的伦理约束,是对罕见病群体的保护,也是罕见病数据安全和质量的需要。通过对罕见病数据体系建设的现状,包括流行病学、临床诊疗、药物实验及随访等数据内容,进行分析及展望,为罕见病数据体系的完善提供参考。从公正、不伤害、尊重、共享及法治化等方面,对罕见病数据收集过程中遵循的伦理学问题进行了探讨,以期提高罕见病数据收集的规范化及对数据伦理审查的认识。

The research on rare diseases in China started relatively late,with scattered research resources and weak data foundation in epidemiology,diagnosis and treatment,and medication,which hinders its research progress.The rare disease data system is the foundation of rare disease research,and the ethical constraint on rare disease data collection is not only the protection of rare disease population,but also the need for the safety and quality of rare disease data.By analyzing and prospecting the current status of the construction of rare disease data systems,including the data of epidemiology,clinical diagnosis and treatment,drug trials,and follow-up to provide reference for the improvement of rare disease data systems.This paper explored the ethical issues to be followed in the process of rare disease data collection from the perspectives of justice,no harm,respect,sharing,and legalization,so as to improve the standardization of rare disease data collection and the understanding of data ethical review.