Abstract
Background: In China, there are severe unmet medical needs of people living with rare diseases. Relatedly, there is a dearth of data to inform rare diseases policy. This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection. Objective: This study aims to introduce the progress of China's rare disease informatics platform and knowledgebase, and to discuss critical enablers of rare disease informatics innovation, including: data standardization; knowledgebase construction; national policy support; and multi-stakeholder participation. Methods: A systemic national strategy, delivered through multi-stakeholder engagement, has been implemented to create and accelerate the informatics infrastructure to support rare diseases management. This includes a disease registry system, together with more than 80 hospitals, to perform comprehensive research information collection, including clinical, genomic and bio-sample data. And a case reporting system, with a network of 324 hospitals, covering all mainland Chinese provinces, to further support reporting of rare diseases data. International standards were incorporated, and privacy issues were addressed through HIPAA compliant rules. Results: The National Rare Diseases Registry System of China (NRDRS) now covers 166 rare diseases and more than 63,000 registered patients. The National Rare Diseases Case Reporting System of China (NRDCRS) was primarily founded on the National Network of Rare Diseases (NNRD) of 324 hospitals and focused on real-time rare diseases case reporting; more than 400,000 cases have been reported. Based on the data available in the two systems, the National Center for Health Technology Assessment (HTA) of Orphan Medicinal Products (OMP) has been established and the expert consensus on HTA of OMP was produced. The largest knowledgebase for rare disease in Chinese has also been developed. Conclusion: A national strategy and the coordinating mechanism is the key to success in the improvement of Chinese rare disease clinical care and drug accessibility. Application of innovative informatics solutions can help accelerate the process, improve quality and increase efficiency.
Highlights
Rare Diseases refer to diseases with a very low incidence, often chronic and progressive, and life-threatening (Orphanet, 2021)
With the endorsement of the National Health Commission of China, the Peking Union Medical College Hospital (PUMCH) serves as the national rare diseases center, which is mainly responsible for taking the lead in establishing and improving the working mechanism of the collaboration network, formulating a national plan for doctor training, and treating the most critically ill patients with rare diseases, provides planning, coordinating, management, and technical support, and coordination of a national network of 324 hospitals for conducting direct case reporting on the 121 rare diseases included in China’s First List of Rare Diseases
The National rare diseases registry system of China (NRDRS) covers the registry of 166 rare diseases and 63,470 registered patients in 185 case reporting forms (CRF) (Figure 2)
Summary
Rare Diseases refer to diseases with a very low incidence, often chronic and progressive, and life-threatening (Orphanet, 2021). In the United States, a rare disease is defined as a condition that affects fewer than 200,000 people in the US (The Genetic and Rare Diseases Information Center, 2021). In Korea, rare diseases are defined as diseases that affect fewer than 20,000 people or diseases for which an appropriate treatment or alternative medicine has yet to be developed (Song et al, 2012). In Australia, a disease is considered rare if it affects less than 5 in 10,000 people (Australian Government Department of Health, 2020). In 2018, the Chinese government officially released its first list of rare diseases, which included 121 rare diseases (The National Health Commission, 2019). There is a dearth of data to inform rare diseases policy This is historically partially due to the lack of informatics infrastructure, including standards and terminology, data sharing mechanisms and network; and concerns over patient privacy protection
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