Four national measures to build a rare disease protection network

Albinism, amyotrophic lateral sclerosis, osteogenesis imperfecta, congenital myasthenia syndrome, Fabry's disease, hemophilia, Gaucher's disease Many people have never heard of the names of these diseases, and even many medical workers know little about them In fact, the incidence rate of these diseases in the population is not high, and because of their rare and rare, they are also known as "rare diseases" This kind of disease is not only easy to cause early disability and young death, but also easy to lead to high misdiagnosis, high missed diagnosis, difficult medication and other problems due to the lack of clinical experience, so it is called "medical orphan" According to statistics, there are 6000-8000 internationally recognized rare diseases, only 1% of which can be effectively treated And even these rare diseases with few available drugs basically need to take expensive drugs for life to delay the progress of the disease In our country, because of the huge population base, in fact, any kind of rare disease has a large number of patients, and because most of the rare diseases are congenital diseases caused by gene mutation or family inheritance, more than half of the patients are children In recent years, with the continuous improvement of the level of disease awareness and the gradual improvement of China's medical security system, the security of patients with rare diseases, a special group, has gradually attracted widespread social attention At the same time, the state has also begun to give strong support to the protection of rare diseases from the top-level design level In the 13th five year plan for deepening the reform of medical and health system released in December 2016, for the first time, support for "rare drugs" has been included in the key tasks of deepening medical reform in the 13th five year plan Since then, China's rare disease security system has been gradually established 1 Make clear the list of rare diseases and lay a foundation for the establishment of safeguard system On May 11, 2018, five departments including the national health and Health Commission, the Ministry of science and technology, the Ministry of industry and information technology, the State Drug Administration and the State Administration of traditional Chinese medicine jointly issued the catalogue of the first batch of rare diseases, including 121 diseases such as hemophilia, albinism, amyotrophic lateral sclerosis, Gaucher's disease and Fabry's disease, aiming to strengthen the management of rare diseases in China To improve the level of diagnosis and treatment of rare diseases and safeguard the health rights and interests of patients with rare diseases The release of the national version of the catalogue is the result of the efforts of the whole industry, which is of great significance for rare diseases in China With this catalogue as a reference, it can not only help solve the problem of the lack of epidemiological data of this kind of disease, but also guide the research and development of rare drugs in pharmaceutical enterprises and the diagnosis and treatment of rare diseases in medical institutions; it can also provide priority reference for the relevant national and local departments to formulate medical security and social assistance policies for rare diseases 2 In April 2018, the State Drug Administration issued the implementation measures for drug test data protection (Provisional) (Draft for comments), which proposed to protect the test data of several types of drugs including rare disease treatment drugs for a certain period of time It stipulates that: drugs for rare diseases shall be given a data protection period of 6 years from the date when the indication is first approved in China Although it is only a draft for comments, it is the first time that the state has proposed to establish a data protection period for the use of drugs for rare diseases in the situation of official documents In this way, we can give exclusive protection to drug experimental data of rare disease drug research and development enterprises, and then encourage drug enterprises to engage in related research and development from the perspective of intellectual property rights In addition to encouraging research and development, the state has also issued relevant policies to speed up the approval and listing of rare drugs, especially to speed up the entry of new drugs into China that are urgently needed in clinical practice In July 2018, the State Drug Administration issued the technical guidelines for accepting overseas clinical trial data of drugs, pointing out that for drug registration applications for rare diseases, "if the overseas clinical trial data is assessed to be 'partially accepted', the method of accepting clinical trial data with conditions can be used to collect further effectiveness and safety after the drugs are listed Data for evaluation " So as to encourage the simultaneous research and development of drugs at home and abroad, and accelerate the listing of drugs that are urgently needed in clinical practice, with definite efficacy and controllable safety risks in China One month later, in August 2018, the State Drug Administration issued another notice, listing 48 overseas clinically urgent new drugs that had been listed and selected by experts jointly organized with the national health and Health Commission The drugs listed in this list are all new drugs approved by the United States, the European Union or Japan in recent years, but have not yet been listed in China, most of which are for the treatment of rare diseases For the products involved in this list, SFDA has set up a special evaluation channel and communication mechanism for them to speed up the approval and listing 3 In terms of medical insurance and price reduction, more patients can afford to use rare drugs in medical insurance Although the state has not independently carried out special directory access work for rare disease drugs, in fact, the medical insurance has realized that "the key business of medical insurance policy in rare disease insurance is to achieve the rescue of high-value drugs." Therefore, in the two rounds of negotiations on medical insurance for high-value drugs launched in 2017 and 2018, some rare drugs have been quietly included in the basic medical insurance, such as riluzole for "progressive frostbite", recombinant human coagulation factor for hemophilia, octreotide for acromegaly, etc At the same time, according to the statistics of small insurance, nearly half of the 21 rare drug tax reduction lists released by the state have been included in the national health insurance catalog Therefore, in the next round of national health care negotiations in 2019, it can be predicted that relevant departments will continue to pay attention to this aspect At the same time, the local government has also made exploration and efforts to improve the medical security system for rare diseases according to its own actual situation For example, in 2012, Qingdao issued the opinions on the establishment of medical assistance system for serious diseases in cities and towns (for Trial Implementation), which explicitly included rare diseases in the medical security system for serious diseases In 2015, Zhejiang Provincial Department of human resources and social security, provincial health and Family Planning Commission and other four departments jointly published the notice on strengthening the medical security work for rare diseases (Draft for comments), which included three diseases that can be diagnosed, cured or controlled, such as gerschneider's disease, progressive frostbite and phenylketonuria, into the scope of medical security diseases for rare diseases in Zhejiang Province Shanghai has also included some rare disease drugs in the basic medical insurance coverage, and set a reimbursement limit of 200000 yuan / year / person for 12 rare diseases such as phenylketonuria, Gaucher's disease, Fabry's disease and mucopolysaccharidosis In addition, the special relief fund under the Shanghai rare disease prevention and control foundation also provides strong support for the establishment of a multi-level rare disease guarantee system in Shanghai Direct medical settlement in different places also helps patients with rare diseases get better medical security On the one hand, the hospitals and doctors who are able to diagnose and treat rare diseases basically only exist in the top three hospitals with strong comprehensive diagnosis and treatment ability, and these medical resources are mainly concentrated in the first and second tier cities; on the other hand, some rare drugs are only included in the medical insurance in some areas, such as the injection of imidzinase to treat Gaucher's disease, and patients tend to seek medical treatment in these areas Therefore, the proportion of patients with rare diseases in different places is significantly higher than that of common diseases In this case, the relevant departments continue to promote the national cross provincial direct settlement of hospitalization medical expenses, continue to increase the number of designated medical institutions, so that more patients with rare diseases can be treated in different places, and get more preferential reimbursement settlement in accordance with the policies of different places At the same time, the government also pushed the price of rare drugs down from the tax level On February 11, the executive meeting of the State Council deployed measures to strengthen the early diagnosis and treatment of cancer and the guarantee of drug use It was decided that from March 1, the value-added tax should be reduced by 3% for the first batch of 21 drugs with rare diseases and 4 APIs, and the value-added tax can be calculated by 3% simple method for domestic links Subsequently, the Ministry of Finance issued specific policies and announced the first batch of 21 rare disease drugs and 4 APIs included in the tax reduction catalogue 4 To strengthen the construction of diagnosis and treatment capacity in an all-round way and do a good job in the prevention and treatment of rare diseases makes the prevention and treatment of rare diseases difficult, but in fact, the bigger problem in China is that doctors and hospitals who can diagnose and treat such diseases are also "rare", which leads to many rare diseases can not be found and treated in time and delays the patient's condition For this reason, the national health and Health Commission has selected 324 hospitals with strong ability of diagnosis and treatment of rare diseases and a large number of cases to establish a collaborative network of diagnosis and treatment of rare diseases, including one national leading hospital, 32 provincial leading hospitals and 291 member hospitals Among them, the leading hospital is mainly responsible for taking the lead in formulating and improving the working mechanism of the cooperation network, receiving the difficult and critical rare disease patients referred by the member hospitals, and coordinating the high-quality medical resources of the cooperation network hospitals within the jurisdiction for diagnosis and treatment; the member hospitals are mainly responsible for the diagnosis and treatment and long-term management of the general rare disease patients Through the establishment of this diagnosis and treatment cooperation network, we can achieve relatively centralized diagnosis and treatment of rare diseases and two-way referral, improve the comprehensive diagnosis and treatment capacity of rare diseases in China, and gradually achieve the goal of early detection, early diagnosis, treatment and management of rare diseases Not only that, according to relevant experts, the health care Commission will also rely on this diagnosis and treatment network to further promote the registration of rare diseases nationwide, so as to bring more patients with rare diseases into the national security system At the same time of ensuring diagnosis and treatment resources, the state has standardized the diagnosis and treatment process of rare diseases from the technical level On February 27, that is to say, yesterday, the guideline for diagnosis and treatment of rare diseases (2019 version) was officially released (see QR code at the end of the article), which was led by China rare diseases alliance and Beijing Union Medical College Hospital This guide is the first one about the diagnosis and treatment of rare diseases in China It covers 121 kinds of rare diseases in the first batch of rare diseases catalogue issued by the state The definition, etiology and epidemiology, clinical manifestations, auxiliary examination, diagnosis, differential diagnosis and treatment of each disease are elaborated in detail At last, the diagnosis and treatment process is put forward, which fully embodies the scientificity, standardization and guidance of the identification, diagnosis and treatment of rare diseases in China Through the above four measures, the country has built a comprehensive security system around the whole life cycle of rare disease diagnosis and treatment It is true that there are still many "pain points" to be solved in the prevention and control of rare diseases in China The current rare disease security system is only a basic framework, and there are many detailed rules at the implementation level that need to be further supplemented and improved But anyway, the sunshine of the party and the government has been shining on this special group In the future, it will be spring and full of business to meet the patients with rare diseases Related news link: 21 kinds of rare diseases: how to solve the dilemma of overseas drugs and domestic drugs free https://www.yigoonet.com/article/22356292.html