2019 Volume 13 Issue 4 Pages 314-323
China has initiated the special security project for rare diseases from the national strategic level since 2018. Chinese government has formulated China's First List of Rare Diseases (121 diseases included), established Expert Committee of Diagnosis, Treatment and Security of Rare Diseases and China Alliance of Rare Diseases. The government also encouraged all the provinces to include the security plan and strategies of rare diseases into key work and promoted the establishment of rare diseases clinical research center and the formulation of diagnosis and treatment guidelines. All these actions led to the further improvement of scientific research ability and diagnosis and treatment ability. In terms of the treatment drug of the 121 diseases in China's First List of Rare Diseases, 83 of them are on the market in China and 50 have been included in the national medical insurance accompanied with the tax reduction policy on rare diseases drug and several charity foundations and enterprise donation programs were developed so that drug availability and accessibility for patients are increased. However, there is no clear definition and corresponding coding of rare diseases; the economic burden of most rare diseases could not be calculated accurately because of the difficulty in diagnosis and misclassification. Regarding the service provision system, social security system of rare diseases in China needs further improvement because of the rather few kinds of rare diseases involved in the screening, low level of diagnostic ability, rather few rehabilitation programs and the lack of social caring and knowledge training. It is necessary for China to provide comprehensive and well-rounded health care and social caring for rare diseases patients. Since the formulation and implementation conditions of the policy are different among different regions, the pilot should be carried out first in regions with desired qualifications when China is formulating the rare diseases policy and then a mature national plan should be developed.