Intractable & Rare Diseases Research | The Imperative for National Legislation on Rare Diseases in China: A Policy Review and Call to Action

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This article systematically reviews core challenges faced by rare disease patients in China, including diagnostic delays, high treatment costs, and insufficient healthcare coverage, and argues that national legislation is a crucial step toward achieving medical equity and fostering biopharmaceutical innovation.

 

Literature Overview

The article, 'The imperative for national legislation on rare diseases in China: A policy review and call to action,' published in the journal Intractable & Rare Diseases Research, reviews and summarizes the limitations of China's current policy framework in the field of rare diseases. It analyzes systemic challenges and unmet medical needs faced by patients, emphasizing that the lack of national legislation leads to fragmented policies, poor access to diagnosis and treatment, and insufficient innovation incentives. Based on patient registry data, policy documents, and proposals submitted to the National People's Congress, the article argues for the necessity and urgency of establishing a comprehensive legal system for rare diseases and proposes nine key legislative initiatives. The study points out that although China has released two national rare disease catalogs, established a collaborative diagnosis and treatment network, and brought over 100 rare disease drugs to market, the overall ecosystem still lacks top-level design and sustainable mechanisms. Currently, only about 207 diseases are included in the catalog, accounting for 3% of known rare diseases globally, leaving many patients vulnerable to misdiagnosis, unaffordable high-cost drugs, and financial collapse. Meanwhile, the potential of China's rare disease drug market remains largely untapped, with low domestic innovation and insufficient industry incentives. The article calls for legislation as a means to integrate resources, define standards, establish special funds, and create R&D incentives, ultimately building a fair and sustainable rare disease prevention and treatment system. Ends with an English period.

Background Knowledge

Rare diseases are a diverse group of disorders with extremely low incidence rates—approximately 7,000 known globally—affecting around 20 million people in China. Due to small patient populations per condition and complex clinical manifestations, rare diseases often face 'diagnostic odysseys,' with an average diagnosis time of 4.3 years and misdiagnosis rates exceeding 70%. Even after diagnosis, treatment options are limited—only about 10% of rare diseases have approved therapies globally. In China, many high-cost innovative drugs, with annual treatment costs exceeding 300,000 RMB, are excluded from the national medical insurance catalog, resulting in heavy out-of-pocket burdens. Over 80% of affected families earn less than 50,000 RMB annually but must pay hundreds of thousands for medication. The social support system is weak, and families often fall into a cycle of 'poverty due to illness.' On the R&D front, the absence of legal definitions for 'rare disease' and 'orphan drug' deprives companies of incentives such as market exclusivity, data protection, and tax benefits, discouraging innovation. Although the National Medical Products Administration encourages rare disease drug development, the medical insurance agency is constrained by budget controls, and the National Health Commission focuses on 'diagnosable and treatable' conditions, leading to policy misalignment. International experience shows that the U.S. (1983), Japan (1955), and the EU (2000) have all advanced their rare disease ecosystems through dedicated legislation. China released its first rare disease catalog in 2018 and updated it in 2023, but long update cycles and narrow coverage have prevented the formation of a dynamic mechanism. In recent years, the number of rare disease-related proposals during the Two Sessions has increased more than tenfold, involving clinicians, industry stakeholders, and policy researchers, indicating growing cross-sector consensus. Now is the optimal time to push for systemic legislation—not only to protect patient rights but also to advance frontier fields such as gene therapy and precision medicine, enhancing China's position in the global biopharmaceutical value chain. Ends with an English period.

 

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Research Methods and Experiments

This study employs a combined policy analysis and literature review approach to systematically examine the evolution of China's rare disease policies, including the release of national rare disease catalogs, the establishment of collaborative diagnosis and treatment networks, drug inclusion in medical insurance catalogs, and drug accessibility data. The research integrates patient registry data from the Chinese Organization for Rare Diseases (CORD), covering 26,304 patients, a national rare disease survey involving 1,010 adult patients, and multiple questionnaire datasets to analyze diagnostic delays, misdiagnosis rates, treatment accessibility, and financial burden. Additionally, the authors collected and analyzed rare disease-related proposals submitted by deputies and members during the 2019–2024 Two Sessions to track the formation of social consensus. By comparing international rare disease legislation (e.g., the U.S. Orphan Drug Act, Japan's Specific Disease Treatment Systems) and considering China's socioeconomic development level (per capita GDP over $10,000), the study argues for the feasibility of legislation. It also cites market forecasts from third-party institutions (e.g., Evaluate Pharma, BCG) to assess the potential and current state of China's rare disease drug market. Based on multi-source evidence, the study proposes nine core recommendations for establishing a national rare disease legal framework.

Key Conclusions and Findings

• Approximately 20 million rare disease patients in China face systemic barriers to diagnosis and treatment, with an average diagnosis time of 4.3 years and a misdiagnosis rate as high as 72.97%, primarily due to a shortage of specialized physicians and uneven distribution of diagnostic resources
• Although over 100 rare disease drugs have been launched in China, only about 43% of diseases in the second national catalog have domestically approved indications, and more than 30 diseases have drugs approved overseas but not yet available in China
• The national medical insurance catalog strictly limits high-cost therapies exceeding 300,000 RMB annually, resulting in most rare disease drugs not being reimbursed, with families often bearing over 80% of treatment costs
• More than 80% of rare disease patient families earn less than 50,000 RMB annually, and their medical expenditures far exceed the WHO's threshold for 'catastrophic health expenditure' (40%), creating a vicious cycle of 'poverty due to illness'
• China's rare disease drug market is projected to reach 60–90 billion RMB by 2030, yet only 42% of currently marketed drugs are domestically produced, mostly generics, with weak capacity for original innovation
• Policy fragmentation is the fundamental barrier: the lack of legal definitions leads to no unified standards for 'rare disease' and 'orphan drug,' unclear inter-agency responsibilities, and disconnection between central and local support
• The number of rare disease-related proposals during the Two Sessions has increased more than tenfold over the past decade, with initiators expanding from clinicians to industry, economic, and policy experts, indicating that social consensus has formed
• China's per capita GDP has exceeded $10,000, providing an economic foundation for legislation, and countries with lower income levels (e.g., Colombia, the Philippines) have already enacted rare disease laws, demonstrating that the time is ripe
• The authors propose nine legislative initiatives, including establishing a national legislative task force, clearly defining rare diseases and orphan drugs, creating a special fund, strengthening R&D incentives, and safeguarding patients' social rights

Research Significance and Outlook

This study provides systematic evidence and a policy blueprint for advancing national rare disease legislation in China. Its core significance lies in elevating rare diseases from a medical issue to a national strategic priority, emphasizing that legislation is not only a humanitarian responsibility but also a key lever for promoting biopharmaceutical innovation and achieving the goals of Healthy China 2030. By establishing a legal framework, standardized diagnostic criteria, optimized payment mechanisms, and incentives for domestic R&D can be achieved, breaking the current deadlock of 'no drugs available, drugs without coverage, coverage without funding.'

If legislation progresses, three major transformations are expected: first, a shift from 'catalog-driven' to 'definition-driven' coverage, automatically including newly discovered diseases; second, a shift from 'fragmented payment' to 'special funds + multi-layered security,' alleviating pressure on basic insurance; and third, a shift from 'generic reliance' to 'original innovation,' promoting the development of frontier technologies such as gene therapy and RNA drugs. Additionally, legislation will facilitate patient registries, biobank construction, and real-world data accumulation, laying the foundation for precision medicine. Internationally, this would be seen as a significant milestone in the modernization of China's health governance.

 

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Conclusion

This article systematically argues for the urgency and feasibility of enacting national rare disease legislation in China. Despite progress over the past decade in catalog development, drug access, and insurance coverage, challenges such as policy fragmentation, diagnostic delays, limited treatment access, and heavy financial burdens remain severe. Existing mechanisms fail to meet the medical and social needs of 20 million patients and have not unlocked the vast market potential in the rare disease sector. The study highlights that the absence of legal definitions for 'rare disease' and 'orphan drug' leads to insufficient R&D incentives, rigid payment mechanisms, and poor inter-agency coordination. With a sharp increase in rare disease-related proposals during the Two Sessions, cross-sector consensus is forming. China now possesses the economic foundation and social conditions necessary for legislation. The authors propose nine core recommendations, including establishing a legislative task force, creating a special fund, strengthening R&D incentives, and protecting patients' social rights. Advancing systemic legislation will not only improve patient quality of life but also represent a significant step toward positioning China as a global leader in biopharmaceutical innovation. The current moment represents the optimal window for action—urgent central coordination is needed to transform policy exploration into legal protection and build a sustainable, equitable, and innovative rare disease prevention and treatment system.

 

Yangyang Li, Zheng Liu, Rufang Huang, and Yugang Liu. The imperative for national legislation on rare diseases in China: A policy review and call to action. Intractable & Rare Diseases Research.