罕见病综合保障体系建设的国际经验与启示

International Experiences and Enlightenment on Construction of Rare Diseases Comprehensive Security System

关注数量庞大的罕见病患者群体,完善罕见病综合保障体系,是保障患者健康权、生存权的迫切需要,也是实施健康中国战略的必然要求。本研究通过实地考察部分国家以地中海贫血为代表的罕见病防治经验与成效,结合文献调研,从政策法规、预防控制、诊断治疗、医疗保障、社会支持等维度梳理罕见病防治的国际经验,并在此基础上,提出健康中国理念下我国罕见病综合保障体系的构建策略:建立国家层面应对罕见病的整体规划与行动方案;加强罕见病预防、筛查和早期干预;建立罕见病专业救治中心,诊疗技术引进与自主研发并举;完善多层次医疗保障和综合救助体系,减轻患者疾病经济负担;构建罕见病社会支持体系,提供全方位全周期健康服务。

Focusing on a large number of rare disease group and improving rare diseases comprehensive security system are the urgent needs of the patients＇ right to health and life,as well as the inevitable requirement of implementing the strategy of Healthy China. We investigated experiences and effectiveness in the prevention and treatment of rare diseases in some countries,where thalassemia is one of typical rare diseases. Meanwhile,through literature survey,we analyzed international experiences on prevention and control for rare diseases from the aspects of policies and regulations,control and prevention,diagnosis and treatment,medical insurance as well as social support. And then,we put forward the construction strategies for China＇s comprehensive rare disease security system under the concept of Healthy China： we should establish overall planning and action plans for rare diseases at the national level,strengthen prevention,screening and early intervention of rare diseases,establish a special treatment center for rare diseases and introduce diagnosis and treatment technology together with independent research and development. In addition,we should improve the multi-tiered medical security and comprehensive assistance system to reduce the economic burden of patients＇ diseases and build a social support system for rare diseases in order to provide all-round and whole-cycle health services.