作者投稿
专家审稿
编辑办公
主编办公
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摘要: 罕见病是一类发病率、患病率极低的疾病的总称。由于单病种患病人数相对较少，导致罕见病的诊断治疗、药品研发、医疗保障、科学研究等方面发展不充分，表现出诊断治疗难度偏大、有效治疗药物偏少、医疗保障程度不高等问题。2018年，中国《第一批罕见病目录》公布，首次明确了罕见病管理范畴，大力促进罕见病事业发展。“十三五”以来，中国针对罕见病预防诊疗、药品研发注册及生产流通、患者医疗保障、医学科学研究等方面陆续推出系列有效的政策措施。为进一步提升罕见病诊疗和管理能力，更好地维护罕见病患者的健康权益，本文重点梳理了近年来中国罕见病相关政策和探索实践，并提出了相关建议。Abstract: Rare disease (RD)is the general term for a class of diseases with very low prevalence.Due to the relatively small number of patients with rare diseases, the diagnosis and treatment, drug research and development, medical safeguard, and scientific research of rare diseases are poorly developed, which highlight the difficulty in diagnosis and treatment, lack of availability of treatment drugs, and lower rate of medical safeguard. In 2018, China's First Edition of Rare Diseases Catalogue was published, which for the first time defined the management scope of rare diseases and promoted research development in field of RD.Since the 13th Five-Year Plan, China has launched a series of policies and measures outlining prevention and treatment of rare diseases, drug research and development, registration, accessing healthcare, and scientific research.In order to further improve the diagnosis, treatment, and management of rare diseases, and better safeguard the health rights and interests of patients with RDs, this paper focuses on the policies and exploration and practice related to rare diseases in China in recent years, and makes suggestions for future policy reviews.
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Key words:
- rare disease /
- prevention, diagnosis and treatment /
- healthcare and security /
- policy
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