Rare disease day: the first domestic diagnosis and treatment guide issued by the national health and Health Commission said that the content is comprehensive and the quality is excellent

The last day of February is world rare disease day Year after year, the health community has recorded the development of rare disease prevention and control in China As Zhang Shuyang, vice president of China rare diseases alliance and vice president of Beijing Union Medical College Hospital, said, "China's rapid development in rare diseases diagnosis and treatment is just like that of China's high-speed rail, which is amazing and unexpected." At the second plenary session of the NGO Committee on rare diseases held by the United Nations on Thursday (February 21), Zhang and other participants highly praised the achievements made by China in the diagnosis and treatment of rare diseases and the security system A ship of ten thousand miles is a compass On February 27, China's first diagnosis and treatment guide for rare diseases, the guide for diagnosis and treatment of rare diseases (2019 version) (hereinafter referred to as "guide south"), was issued under the leadership of the office of the Expert Committee for diagnosis and treatment of rare diseases, the Chinese Academy of medical Sciences and Beijing Union Medical College Hospital entrusted by the National Health Commission At the meeting, Zhang Zongjiu, director of the medical administration bureau of the national health and Health Commission (hereinafter referred to as the national health and Health Commission), said that the guide gave a comprehensive explanation from the aspects of disease overview, etiology, epidemiology, clinical manifestations, auxiliary examination, diagnosis and differential diagnosis, treatment and management In the process of compiling a simple and concise diagnosis and treatment flow chart for each disease, especially referring to the latest single disease guide, diagnosis and treatment specifications and expert consensus at home and abroad, and providing important references, it can be said that it is the first comprehensive and high-quality diagnosis and treatment guide for 121 rare diseases in China so far The incidence rate of rare diseases is a low incidence and a wide variety of diseases Because of the large population base in China, rare diseases are not rare in China Zhang Zongjiu said that the key to improving the comprehensive diagnosis and treatment ability of rare diseases in China is to find and diagnose as early as possible, be able to treat and have medicine However, at present, China is generally faced with problems such as low level of diagnosis and treatment of rare diseases, lack of experience and ability in diagnosis and treatment In order to further standardize the diagnosis and treatment of rare diseases, improve the ability of medical workers to identify, diagnose and treat rare diseases, the government issued the first diagnosis and treatment guide on rare diseases through the preparation of more than 100 relevant experts and the review of more than 80 authoritative experts "The core of rare diseases is diagnosis and treatment." Zhang said that the guide brings together the collective wisdom of nearly 100 experts and scholars who have been engaged in the diagnosis and treatment of rare diseases for a long time in China's clinical front line, which has practical and important guiding significance for improving the standardized diagnosis and treatment level of rare diseases in China Du Xian, editor in chief of the people's Health Publishing House, also said that the publication of the guide marks that China has embarked on the track of normalization, standardization and standardization in the prevention, diagnosis and treatment of rare diseases; it also marks that China has made important contributions to the thoughts, concepts and methods of the prevention and treatment of rare diseases in the world, so as to realize that China has become a leader in the prevention and treatment of rare diseases In recent years, our government departments have been increasing support for the prevention and control of rare diseases In May 2018, the national health and Health Commission and other five departments jointly issued the first batch of rare diseases catalogue in China, including 121 kinds of rare diseases; on February 11, 2019, the executive meeting of the State Council proposed to give value-added tax preference to rare disease drugs; on February 15, the General Office of the national health and Health Commission issued the notice on the collaborative network of rare disease diagnosis and treatment; on February 27, the National Health Commission commissioned the development of the guide The prevention and control of rare diseases is in the best period in history "The government has raised the prevention and control of rare diseases to the right to health and important issues of people's livelihood; it encourages comprehensive preferential treatment in the approval, production, scientific research, import, tax and other aspects of orphan drugs." Professor Hu Shanlian, director of Shanghai Health Development Center, said at the seminar on rare disease drug evaluation and market access that the development of rare disease / orphan drugs in China is in the best period in history Although the government is vigorously promoting the development of drugs for rare diseases, rare diseases are still one of the biggest challenges facing human medicine Zhang Shuyang said that the first difficulty of the current challenge of rare disease diagnosis and treatment is to know exactly how many diseases and groups of Chinese rare diseases are, and how the incidence rate and prevalence rate of diseases can be made, and then provide suggestions for government decision-making Only when China finds out which rare diseases have no drugs, China needs to take part of the funds to develop rare drugs "At present, the above problems are being gradually overcome through the construction of the national registration system for rare diseases (hereinafter referred to as nrdrs)." Zhang said that the system mainly includes four functions: disease registration, construction of rare disease knowledge base, multi-level data sharing and dynamic information display; the system can support the registration of 131 rare diseases, with more than 30000 registered cases Nrdrs can further promote the early detection and treatment of rare diseases However, there are still two difficulties in the accessibility of drugs for the treatment of rare diseases (orphan drugs): first, the price of drugs is too high; second, the technical evaluation of drugs still needs to be improved and innovated It is the voice of many rare patients in our country that the price of orphan drugs is more reasonable Li Hong, a visiting associate professor at University of Cincinnati and vice president of Digital China Medical Polytron Technologies Inc, said that there is no complete framework for health technology assessment of rare diseases (HTA) in China According to Li Hong, the development of HTA in China is at an early stage, and it is difficult to assess the "unworthy" (reasonable) cost of rare diseases "In the treatment of rare diseases, we should start from humanitarianism and take patients as the center, and work together through the government (Policy), medical staff, patient groups, drug research and development and other social aspects to realize the reasonable cost of rare disease treatment." On the way to achieve "value for money" in the treatment of rare diseases, drug pricing is the key link At the meeting, through the introduction of Zhang Min, head of the Department of patient services and public affairs of Greater China in Takeda, it can be found that the research and development of orphan drugs is extremely complex, especially affected by "high proportion of children's patients" and other issues "There are data showing that one third of children with rare diseases are not able to have their 5th birthday." Zhang Min said that more than 50% of the rare diseases occur in childhood The high proportion of children patients puts forward new requirements for clinical trials, that is, to develop a reasonable evaluation of rare disease drugs according to the growth and development of children of different ages, and to make corresponding adjustments to the relevant clinical trials Both the development of HTA and the adjustment of clinical trials of rare diseases are inseparable from the participation of patients with rare diseases At the meeting, Zhao Kun, director of the Health Technology Evaluation Research Office of the National Health Commission health research and development center, also stressed that we should pay attention to the participation of patients with rare diseases in the health technology evaluation of orphan drugs, and shared the experience of Britain and Canada in the health technology evaluation of orphan drugs In the published catalogue of the first batch of rare diseases in China (hereinafter referred to as the catalogue), 121 kinds of rare disease treatment drugs are listed and registered and medical insurance is included Zhao Kun introduced that the catalogue includes 162 global therapeutic drugs, covering 74 disease species Although the coverage has been very wide, there are still 47 disease species without therapeutic drugs in the world The catalogue not only introduces the rare diseases clearly, but also adds impetus to the research and development of orphan drugs In addition, the release of the guide has implanted a strong force in the research and development of orphan drugs in China Wang Jingang, general manager of Beijing Kexin Bicheng Pharmaceutical Technology Development Co., Ltd., said that the release of the guide is conducive to the discovery of more patients with rare diseases, and these patients will also receive more standardized treatment "With the gradual expansion of this group, the enthusiasm of pharmaceutical enterprises for innovation will be further stimulated." Guidelines for diagnosis and treatment of rare diseases (version 2019) Docx related news link: diagnosis time of children with rare diseases up to five years, artificial intelligence and other new technologies or status quo can be changed http://med.sina.com/article_detail g 2_.html