Assist in the early diagnosis and treatment of rare diseases and the high-risk screening project for lysosomal storage disease will be launched in 30 provinces
China News Service, Beijing, June 20 (Reporter Li Yanan) Lysosomal storage diseases (LSDs) are a group of rare genetic metabolic diseases, such as Gaucher disease, Pompe disease, Fabry disease, and mucopolysaccharidosis Type I is more common. The lysosomal storage disease high-risk screening project was launched online on the 20th. The project will carry out free testing for potential patients with lysosomal storage disease in 30 provinces across the country to help potential lysosomal storage diseases such as Gaucher disease. Patients were diagnosed in time to help standardize the diagnosis and treatment of rare diseases.
China has a large population base. According to foreign epidemiological data, the total number of patients with potential rare diseases is not low. However, many potential patients have not been diagnosed for a variety of reasons. The first major obstacle in the treatment of patients with rare diseases.
Take lysosomal storage diseases (LSDs) as an example, this is a group of rare hereditary metabolic diseases, with Gaucher disease, Pompe disease, Fabry disease, mucopolysaccharidosis type I are more common, many patients There have been misdiagnoses and it often takes years to confirm the diagnosis. According to the 2019 Survey Report on the Survival of Gaucher's Disease Patients, 61.9% of Gaucher's disease patients had misdiagnosed experiences, and 27.9% of patients needed 1-5 years to be diagnosed.
Qiu Zhengqing, Pediatrics Peking Union Medical College Hospital, said: "Diagnosis of rare diseases is difficult for two main reasons. First, the clinical manifestations of rare diseases are diverse and complex, often involving multiple disciplines. Low cognition and limited professional knowledge; Second, the detection method for rare diseases is more complicated. At present, there are only a few medical institutions or laboratories in China that can carry out the enzymatic testing of the above diseases. Want to realize the standard diagnosis and treatment of rare diseases and improve the early stage The diagnostic rate is a very important step."
According to reports, this high-risk screening project is sponsored by the Beijing Health Promotion Association, co-organized by PerkinElmer and Sanofi, and will be conducted in 30 provinces across the country. It will pass dried blood paper enzyme testing, biomarker testing and genetic testing. It can help patients who meet the clinical indications to obtain timely and accurate preliminary diagnosis results by means of scientific testing and other means. The patient needs to go to the designated hospital of the project, the clinician will collect 6 blood spots at one time, and send it to the testing laboratory. The laboratory specialist will complete the enzymatic testing and genetic testing within the specified time. Obtain the test report on the laboratory WeChat public account. The entire diagnosis process is simple and convenient, with high accuracy, and at the same time avoids the inconvenience caused by the repeated recall of patients, saves the time and energy of both doctors and patients, and can effectively shorten the diagnosis time.
Experts pointed out that the diagnosis of rare diseases is not easy, and the treatment is more difficult. Although more and more lysosomal storage diseases can be diagnosed and treated, due to the insufficient diagnosis and treatment capacity of rare diseases in China, many patients still cannot be standardized after diagnosis treatment.
Meng Yan, Department of Pediatrics, the First Medical Center of the Chinese People's Liberation Army General Hospital, said: "There is still a long way to go to improve the diagnosis and treatment of rare diseases in China. It needs to be combined to promote multiple dimensions. Among them, because rare diseases usually involve multiple disciplines, the establishment of The collaboration mechanism for diagnosis and treatment of rare diseases is a critical part. In addition, systematic training for clinicians should be strengthened to enhance clinicians’ awareness and diagnosis and treatment capabilities for rare diseases, and promote standardized diagnosis and treatment." (End)