Economic Observer reporter Qu YixianOn February 29, the 17th International Day of Rare Diseases, East China Normal University (hereinafter referred to as "East China Normal University") released the catalogue of Chinese rare diseases in Chinese established by Shi Tieliu's team and Lin Xin's team, which includes a total of 4,455 rare diseases.
At present, the exact types of rare diseases in the Chinese population are unknown. In 2018 and 2023, China released the First Batch of Rare Disease Catalogue and the Second Batch of Rare Disease Catalogue, respectively, which included a total of 207 rare diseases, but this is only a part of the rare diseases.
According to the research results of the East China Normal University team, there are more than 15,000 known rare diseases in the world, of which 80 are hereditary diseases, but less than 10 diseases have been approved ** drugs or programs.
According to the estimates of the U.S. Food and Drug Administration, there are about 300 million rare disease patients in the world, about 20 million rare disease patients in China, and more than 200,000 new patients every year. A 2020 epidemiological survey in Ireland showed that 586 of children aged 14 and younger who die have rare diseases, so rare diseases are also the leading cause of child death.
In the study, the East China Normal University team found that because most rare diseases do not have a unified ICD-10 (International Classification of Diseases) code, different hospitals will assign different ICD-10 extended codes to the same rare disease, resulting in confusion of rare disease information in the medical records of different hospitals. The confounding of disease names and codes not only brings great confusion to the standardization of clinical information on rare diseases, but also makes the analysis results of the Disease Diagnosis Group (DRG) for rare diseases inaccurate, which may mislead the country's decision-making on rare diseases.
Shi Tieliu, a professor at the School of Life Sciences of East China Normal University, introduced that the names and information of the diseases in the rare disease directory of the Chinese population released this time mainly refer to ERAM, the most comprehensive rare disease information annotation platform in the world, and integrate rare disease information in other relevant databases such as the European Union Orphanet.
On this basis, the East China Normal University team conducted large-scale text mining of clinical case articles in the published literature, and carried out comprehensive manual proofreading and standardization of the extracted information, and finally confirmed the rare disease list of the Chinese population. This list is centered on Chinese patients with rare diseases and has the characteristics of the Chinese population.
The database of the Chinese Rare Disease List contains five modules: first, the basic information module, which contains disease definition, inheritance pattern, related genes, disease classification and other disease annotation information; the second is the disease characterization module, which contains the article sentences of disease phenotypes and some phenotypes**; the third is the related gene module, which contains the genes associated with the disease and the mutation annotation information of each gene; Fourth, the ** drug module, including the ** drugs for rare diseases approved for marketing in China and whether they are included in the Class A and Class B medical insurance; Fifth, the case information module, which contains the supporting information of rare disease articles and some cases**.
In the future, through large-scale information integration and standardization, combined with the disease AI model, we are expected to provide comprehensive and systematic information on the field of rare diseases to national health authorities, research institutions, medical institutions, clinicians, and the international community. Shi Tieliu said.
Chen Hao, director of the Drug Policy and Management Research Center of Tongji Medical College of Huazhong University of Science and Technology, believes that the essence of medical security is based on financial institutional arrangements to alleviate the disease burden of patients, and then rational allocation and use of health resources on this basis. Starting from the medical security of patients with rare diseases, the first and second batches of rare diseases were previously managed by the catalog, and the rare diseases included were very limited, which would also cause a lot of practical problems.
For rare diseases, Chen Hao believes that third-party professional groups, especially diverse groups including medicine, clinical, health management, and medical insurance management, should be relied on to jointly formulate standards, bases and methods for rare diseases. On the basis of the definition, we will talk about the allocation and utilization of health resources to be more equitable to patients.