Department of Health Policy Research, Shanghai Health Development Research Center, Shanghai Medical Information Center.
School of Public Health, Fudan University.
Biosci Trends. 2019 Sep 17;13(4):314-323. doi: 10.5582/bst.2019.01209. Epub 2019 Aug 20.
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.
中国自 2018 年起从国家战略层面启动了罕见病特殊保障项目。中国政府制定了中国第一批罕见病目录（包括 121 种疾病），成立了罕见病诊断、治疗和保障专家委员会和中国罕见病联盟。政府还鼓励各省将罕见病保障计划和战略纳入重点工作，推动建立罕见病临床研究中心和制定诊断和治疗指南。所有这些行动都导致了科研能力和诊断治疗能力的进一步提高。在 121 种中国第一批罕见病目录中的治疗药物方面，中国市场上有 83 种，50 种已被纳入国家医疗保险，同时还有针对罕见病药物的减税政策，以及几个慈善基金会和企业捐赠计划，从而增加了患者的药物可得性和可及性。然而，罕见病没有明确的定义和相应的编码；由于诊断困难和分类错误，大多数罕见病的经济负担无法准确计算。关于服务提供系统，中国的罕见病社会保障制度需要进一步完善，因为参与筛查的罕见病种类较少，诊断能力水平较低，康复方案较少，缺乏社会关怀和知识培训。中国有必要为罕见病患者提供全面和完善的医疗和社会关怀。由于不同地区的政策制定和实施条件不同，中国在制定罕见病政策时应首先在有条件的地区进行试点，然后制定成熟的国家计划。
