Challenges and solution to health technology assessment of rare diseases / 国际药学研究杂志

ABSTRACT

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 assess-ment(HTA)is a policy analysis to evaluate the cost-effectiveness, patient reported outcomes, and societal benefits of in-novative technology from multiple dimensions. Due to the nature of rare diseases, there are a number of challenges to ap-ply HTA in rare disease area, including the very low disease prevalence, high heterogenicity of the diseases and a rela-tively 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-effective-ness ratio, and complete exemption of HTA for orphan drugs. In China, the HTA system has not been formally estab-lished yet. Rare disease-related HTA is facing even more challenges. However, the publication of the first list of rare dis-eases is an important milestone to facilitate the establishment of an HTA process of rare disease interventions in China.