Rare Disease' Policy Analysis

1. Overview

Rare diseases affect small populations but impose an immense economic burden. Although global awareness has increased, drug accessibility remains highly unequal across countries, especially in developing health systems like China’s.

2. Policy Progress in China

China has taken significant steps in building a rare disease policy framework. Since 2018, the first National Rare Disease List (covering 121 diseases) and the establishment of the National Rare Disease Diagnosis and Treatment Network have marked milestones in policy development. These measures aim to improve diagnosis efficiency, expand drug availability, and encourage local pharmaceutical innovation.

In 2019, the government released The Report on Drug Accessibility for Rare Diseases in China, which emphasized problems such as high drug prices, limited reimbursement, and regional disparities in treatment. To address these, several pilot regions — including Hainan’s Boao Lecheng International Medical Tourism Pilot Zone — have allowed early access to imported orphan drugs before national approval, offering a testing ground for accelerated review and cross-border collaboration. Meanwhile, cities like Beijing and Shanghai have introduced special reimbursement schemes or charity-based funding programs to ease patients’ financial burdens.

3. International Experience and Lessons

The United States provides one of the most successful policy models through its Orphan Drug Act (1983), which grants tax credits, market exclusivity, and accelerated review to encourage companies to develop rare disease therapies. This policy has resulted in the approval of over 600 orphan drugs, transforming the research landscape.

In Europe, the European Medicines Agency (EMA) coordinates orphan drug designation and cross-border clinical research through the European Reference Networks (ERNs), improving efficiency and reducing duplication of efforts.

Japan offers another unique example: under its Orphan Drug Regulation (1993), drugs for diseases affecting fewer than 50,000 patients can receive subsidies covering up to half of their development costs. Combined with close collaboration between government, academia, and patient organizations, Japan has built a sustainable model balancing innovation with affordability.

4. Implications for China

Drawing on these examples, China could further enhance rare disease drug accessibility through three strategies:

1. Institutionalize long-term incentives such as tax benefits and data protection for orphan drug developers.

2. Integrate multi-level insurance support, combining national insurance, local funds, and commercial programs to reduce out-of-pocket costs.

3. Expand international cooperation, especially in clinical trials and regulatory harmonization, to shorten the time gap between global and domestic drug approvals.

   
   

5. Conclusion

China’s rare disease policy is evolving rapidly, shifting from isolated hospital-based care to a coordinated national system. Yet regional inequalities and limited access to affordable drugs remain pressing challenges. By learning from the experiences of the U.S., EU, and Japan — while leveraging pilot zones like Boao Lecheng — China can build a rare disease ecosystem that combines efficiency, innovation, and compassion.