"China Model" solves the difficult problem of rare disease prevention and control

　　◎Fu Xiaobo, our reporter

　　There is a group around us: they repeatedly go to the doctor, but have been unable to determine what is wrong with the body, and finally diagnosed the disease, but are told that there is no cure or no targeted treatment medicine...

　　According to statistics from the World Health Organization, the number of people suffering from extremely rare diseases accounts for 0.65‰-1‰ of the global population.

The rare diseases they suffer from, due to the variety of diseases, extremely low incidence, few clinical studies, and lack of effective diagnosis and treatment methods, have become a major medical problem faced by all mankind.

　　In recent years, China has explored a "Chinese model" that solves the difficult problem of rare disease prevention and treatment by formulating a rare disease catalog, establishing a nationwide rare disease diagnosis and treatment collaboration network, strengthening regional collaboration and remote support, and opening doors of hope for many rare disease patients.

　　Let rare diseases be "seen"

　　Not long ago, the Chief Physician Wan Xiaoqun of the Department of Cardiovascular Medicine of the First Affiliated Hospital of Xiamen University worked with multidisciplinary experts, and finally diagnosed a patient with amyloid cardiomyopathy that had been suffering for many years.

This is a rare cardiomyopathy caused by abnormal deposits of amyloid in the body's organs and tissues.

　　"The general manifestations of this rare cardiomyopathy are similar to the symptoms of ordinary coronary heart disease, and it is difficult to be diagnosed. This patient is very lucky to receive symptomatic treatment after diagnosis and has been discharged from the hospital." Wan Xiaoqun said, the pathogenesis of most rare diseases Unclear, complicated subject system involved, very high rate of misdiagnosis, and often delayed treatment time leading to poor prognosis, so early diagnosis of rare diseases is crucial for patients.

　　In Wan Xiaoqun's view, the ability to diagnose rare diseases in a short period of time this time benefited from the National Rare Disease Diagnosis and Treatment Network established by the National Health Commission in 2019.

The First Affiliated Hospital of Xiamen University is included together with other 323 hospitals across the country. The member hospitals can conduct relatively concentrated diagnosis and treatment and two-way referral for rare disease patients. Through the sharing of cases and diagnosis and treatment plans, rare diseases can be achieved in all parts of the country. The goal of early detection, early diagnosis, treatment and management in the region.

　　Because rare diseases are mostly caused by genetic abnormalities, they have a higher incidence in children and adolescents.

Dr. Xu Shanshan, deputy chief physician of the Department of Pediatrics of the First Affiliated Hospital of Xiamen University, pointed out: “Most rare diseases are hidden behind common pediatric diseases, and because they are rarely encountered, many doctors are relatively lacking in diagnostic capabilities, making it difficult to treat some rare diseases. The patient was diagnosed as soon as possible, and the patient was transferred to major hospitals for a long time, and received treatment that was not symptomatic when the diagnosis was not clear."

　　"After joining the collaborative network, the national and provincial leading hospitals will provide medical staff training for member hospitals, with the focus on improving the ability of clinicians to identify, diagnose, and treat rare diseases. At the same time, mechanisms for linking rare disease drug supply catalogues and drug interhospital adjustments It greatly facilitates the treatment and collection of medicines for patients with rare diseases." Xu Shanshan said.

　　Redefining rare diseases

　　In 2018, five departments including the National Health Commission, the Ministry of Science and Technology, and the Ministry of Industry and Information Technology jointly issued the "First Batch of Rare Disease Catalog", which included 121 diseases such as albinism, hemophilia, and phenylketonuria.

This is China's first official definition of a rare disease. This innovative move has also made China the first country in the world to adopt a disease catalog management method in the field of rare diseases.

　　Under this guidance, in recent years, China's rare disease research has gradually deepened, relevant data has been continuously accumulated, and clinicians have continuously improved their ability to identify, diagnose, and treat rare diseases. Rare diseases have made great progress in both prevention and diagnosis and treatment.

　　Despite this, there are still many difficulties and challenges in the prevention and control of rare diseases in China. For example, rare disease drugs and diagnostic equipment are mainly imported, and independent research and development are few.

In addition, research reports on rare diseases show that rare diseases are regional, and their clinical pathways, diagnostic criteria, and guidelines need to be independent of China's specific conditions to carry out independent scientific and technological innovation.

　　Fortunately, these difficulties are now expected to be further resolved.

The "Research Report on the Definition of Rare Diseases in China 2021" was recently released in Shanghai. The report redefines rare diseases in China.

As a result, the “prevalence rate is less than 1/500,000 or the neonatal incidence rate is less than 10,000 are included in rare diseases” is adjusted to “the neonatal morbidity rate is less than 10,000, the prevalence rate is less than 10,000, and the number of patients is less than 140,000 diseases are listed as rare diseases".

When interpreting the report, Professor Wang Lin, Secretary-General of the Joint Conference of National Rare Disease Academic Groups, said that the previous definition was to use data to separate a large number of diseases with a small prevalence rate from common common diseases, with stages. Sexual positive meaning; and this updated definition establishes three dimensions for rare diseases, covering the entire life cycle of patients, helping to more accurately count the patient population and satisfy the interests of the vast majority of patients.

　　Wang Lin said that with the advancement of medicine and the continuous improvement of society’s awareness of rare diseases, the definition of rare diseases in China needs to be revised. Only the use of rare disease catalogs to promote the prevention and protection of rare diseases is no longer sufficient for the development of rare disease medicine and policy formulation. In the future, China’s rare disease business needs to be more standardized, institutionalized, and ruled by law.

　　Some experts believe that after the redefinition of rare diseases, it also provides a reference for the definition of orphan drugs, which will help promote the research and development of rare disease drugs in China and promote scientific and technological innovation in the medical field.