Health and Health Committee: five aspects of work have been done for the management of prevention and treatment of rare diseases

Beijing, Feb 13 - the health and Health Commission held a regular press conference on the morning of Feb 13 According to Jiao Yahui, deputy director of the medical administration of the health and Health Commission, the price of drugs for rare diseases is often more expensive On the one hand, there is a lack of effective diagnosis and treatment means, and the supply of drugs is not the same as that for common diseases On the other hand, the lack of drugs, the drugs that can really effectively treat themselves are limited, some of them are expensive, and patients and families have high prices The burden is heavy In recent years, the National Health Commission has done five work First, to do a good job in the work of rare diseases in our country, first of all, we need to define a good scope, that is, what diseases are rare diseases in our country, so that no matter the scientific and Technological Department, the drug approval department, the medical security department, the social assistance Department, etc., we can carry out relevant work in a targeted way In May 2018, the health and Health Commission, the Ministry of science and technology, the Ministry of industry and information technology, the State Food and Drug Administration and the State Administration of traditional Chinese medicine jointly issued the first batch of rare diseases catalogue, which included 121 kinds of rare diseases In the future, with the improvement of diagnosis and treatment of rare diseases, we will expand the catalogue of rare diseases At the same time, the working procedure for inclusion in the catalogue is formulated, and the catalogue is dynamically adjusted Second, we formulated the diagnosis and treatment standards and guidelines for rare diseases Due to a large number of rare diseases and a small number of patients with a single disease, many hospitals in our country rarely encounter rare diseases The ability and level of diagnosis are relatively lacking, and some rare diseases are difficult to be diagnosed in the first time Therefore, we set up the National Health Commission Expert Committee on diagnosis, treatment and guarantee of rare diseases, formulated relevant norms, guidelines and paths, and carried out training for medical personnel At the same time, a rare disease diagnosis and treatment network has been set up, which is composed of national leading hospitals, provincial leading hospitals and cooperative network member hospitals More than 300 hospitals in China are included in the rare disease diagnosis and treatment network Through relatively centralized diagnosis and treatment and two-way referral, we can provide more efficient diagnosis and treatment services for patients with rare diseases, delay the progress of diseases, and reduce their pain The third is to do a good job in newborn screening, eugenics and eugenics is an important measure to reduce the incidence of rare diseases First of all, we should fundamentally prevent and reduce the occurrence of these rare diseases Therefore, we should build a national neonatal disease screening network, constantly improve the prenatal examination and disease screening system before pregnancy, and strive to reduce the incidence of birth defects, including rare diseases Practice has proved that this is an effective way to reduce rare diseases Fourth, we have carried out subsidy and relief projects, such as with the Ministry of civil affairs, charitable organizations and social organizations We have formed the alliance of rare diseases Social forces in all aspects have done a lot of work to help families and patients with rare diseases and reduce their economic and spiritual burden Fifth, we will work with relevant departments, such as science and technology departments, to strengthen the research and development of rare disease related science and technology, and enhance the promotion of diagnosis and treatment of rare diseases through new drug projects, public welfare industry research projects, as well as national key research and development plans, precision medicine key projects, and so on Jiao Yahui pointed out that the next step will be based on the principle of prevention first, classification and steady progress On the one hand, it is necessary to further reduce the incidence of birth defects of newborns to take some measures to reduce the incidence of rare diseases At the same time, it is necessary to further increase diagnosis and treatment and play the role of network We have set up a registration system for rare diseases to play the role of big data, which will also play an important role in the next step of R & D and scientific research At the same time, we will mobilize all forces to further care for and support patients with rare diseases.