罕见病卫生技术评估的挑战与应对

Challenges and solution to health technology assessment of rare diseases

罕见病是一类发病率和患病率均较低的疾病,中国于2018年出版第一批罕见病目录,列出了121种罕见病,目录的出版让罕见病政策有据可依。卫生技术评估(HTA)是对卫生技术的安全性、有效性和经济学特性等进行的系统评估,其对于罕见病诊断、治疗技术的合理选择有着重要的意义。但由于罕见病患病人数少、异质性高、治疗花费较高,罕见病相关的HTA有着很大的特殊性和挑战。本文总结了发达国家在罕见病的HTA中应用的方法,包括罕见病药物的特别评估流程、对于低质量证据的采纳及常规成本-效果比的调整等,通过以上方法保证新的诊断、治疗技术在罕见病中的应用。中国HTA尚处于起步阶段,对于罕见病的评估则更加缺少经验。但罕见病目录的出版,对HTA在罕见病领域的应用将起到极大的促进作用。相信随着目录出版,会使中国罕见病诊断、治疗技术评估水平更进一步提升。

Rare diseases are diseases with a low incidence and prevalence.In 2018,China published its first list of 121 rare diseases,which set up the foundation for future rare diseases policy formulation.Health technology assessment(HTA)is a policy analysis to evaluate the cost-effectiveness,patient reported outcomes,and societal benefits of innovative technology from multiple dimensions.Due to the nature of rare diseases,there are a number of challenges to apply HTA in rare disease area,including the very low disease prevalence,high heterogenicity of the diseases and a relatively higher cost of innovative interventions.Hence,many of the developed countries are applying special methods and procedures for rare diseases HTA,such as the acceptance of lower-level evidence,a higher threshold of cost-effectiveness ratio,and complete exemption of HTA for orphan drugs.In China,the HTA system has not been formally established yet.Rare disease-related HTA is facing even more challenges.However,the publication of the first list of rare diseases is an important milestone to facilitate the establishment of an HTA process of rare disease interventions in China.