儿童罕见病队列数据库数据共享机制专家共识

Expert consensus on data sharing mechanism of pediatric rare disease cohort database

儿童罕见病由于其发病率低、症状复杂且重叠等特点在诊疗中亟需数据共享,但由于包括遗传信息等特殊敏感信息,目前缺乏细致的共享机制。中国妇幼协会精准医学专委会专家组就此进行了深入讨论,并依托上海申康医院发展中心《促进市级医院临床技能与临床创新三年行动计划(2020―2022年)》“儿童罕见病队列数据库及共享平台建设与应用”项目,集合领域专家意见与实践经验,对跨医疗机构的儿童罕见病队列数据库罕见病数据共享提出一套可操作的流程。希望为相关部门和机构在儿童罕见病数据使用和共享的管理方面提供思路,并指导其管理实践。

Rare diseases in children are in urgent need of data sharing in diagnosis and treatment due to the low incidence,complicated and overlapping symptoms,etc.However,due to the special sensitive information including genetic information,there is currently a lack of detailed sharing mechanism.The expert group of the Precision Medicine Committee,China Maternal and Child Health Association conducted an in-depth discussion on this issue,and based on the project of"Construction and Application of Pediatric Rare Disease Cohort Database and Sharing Platform"(2020—2022)supported by the"Three-year Action Plan for Promoting Clinical Skills and Innovation in Municipal Hospitals"of Shanghai Shenkang Hospital Development Center,a set of operable procedures for sharing rare disease data in pediatric rare disease cohort database across medical institutions is proposed by collecting expert opinions and practical experience in the field.It is hoped to provide ideas for the management of using and sharing the data of pediatric rare disease data by relevant departments and institutions,and guide the management practice.