| BackgroundRare diseases, also been known as orphan disease, refer to a series diseases that affect a small amount of patients which account for a small part of all population. Rare diseases have an extremely low level of incidence and often been excluded from the medical security system.However since the rare diseases have a series of characteristic such as complexity, seriousness, deterioration and disabling, rare diseases can bring the rare diseases patients and their families with serious financial burden and psychological burden. Therefore rare diseases have become a highlighting social issues which should not be overlooked, and drew the attention of country all around the world.Based on the characteristic of rare diseases, the burden of rare diseases patients is more likely to exceeded the burden caused by normal diseases.From the point of view of drug research and development institutions, since that single rare disease can only affect a small population, and most of the rare diseases’drug development may involve genomics,the cost of rare diseases’drug development can be relatively expensive. And this may cause to a low motivation of drug research and development, and also cause to a high price of existing drugs.From the point of view of the government, also since the single rare diseases can only affect a small amount of people, establishing a specialized medical security system that focus on the rare diseases patient needs a large amount of work to create security plan for each rare diseases, as well as the government should pay more attention to and promote the area of research and development of rare diseases’diagnosis and treatment, which means a huge gap in both medical security system and treatment of rare diseases.Recently years, the awareness against rare diseases has been raised by the activities such as "Rare Diseases Day" and "ALS Ice Bucket Challenge", the requirement of improving the diagnosis and treatment against rare diseases and completing the medical security system against rare diseases have been adopt by people.Although the definition of rare diseases seems decided that the number of rare diseases’patient should be rare, the actual number of rare diseases’ patient is nothing near "rare".Based on the definition of rare diseases in each country and region, there are 6% to 8% European Union country’s population suffer from at least 1 rare disease approximately, as 27,000,000 to 36,000,000 population;10% of the United States population also suffer from at least 1 rare disease, as 25,000,000 to 30,000,000 population.At present, the rare diseases patients and their families facing with the situation that lack of appropriate diagnosis, lack of information about rare diseases, lack of knowledge about rare diseases, social discrimination, lack of effective treatment, expensive medical expenses, un-equally receiving medical treatment and etc. Since a single rare diseases is relatively "rare", the knowledge of the disease, the effective diagnosis and treatment of the diseases are all weaker than general diseases. Meanwhile since the patient of rare diseases is rare, the pharmaceutical company, as the main body of research and development against orphan drug, in order to pursue benefit, the cost of rare diseases" treatment is relatively expensive.In China, the definition of rare diseases is not clear, the classification of rare diseases is also not clear, the medical workers’knowledge of rare diseases is not enough, the capacity of diagnosis and treatment against rare diseases is weak, the rare diseases patients are lack of medical security, the burden of rare diseases is high, and the encouragement policies of orphan drug needs to be further implemented. Therefore, the response against rare diseases in China is basically missing, and the aspects mentioned above should all been strengthen and improved.European Union (EU) issued "Communication of the European Commission "Rare Diseases:Europe’s challenge" and "The Council Recommendation on European Action in the field of Rare Diseases" in 2008 and 2009.These reports recommended the member states should establish a response mechanism against rare diseases and also improve the cooperative ability between member states against rare diseases.After these two documents, European Commission established European Project for Rare Diseases National Plans Development (EUROPLAN) within the European Community Action Framework in order to help each member states to establish their own rare diseases national plan. EUROPLAN propose a set of workshop and a guidance document to help and provide a specific guidance for member states creating a rare diseases national plan. And also EUROPLAN is currently the only guidance document for helping a country or region to create rare diseases response plan issued by a authority.Therefore, this paper mainly carry out the following study:①nalyzing and comparing the situation of EUROPLAN of the country or region that has a higher level of rare diseases response and find out the country or region that have a better performance in the core content of EUROPLAN as an example;②analyzing and comparing the performance of the core content of EUROPLAN of the example and China and find out the reason that cause such different, as well as to propose the suggestion of further rare diseases response in China.ObjectivesComparing and analyzing the country or region that has a higher level of rare diseases response based on the EUROPLAN framework, and finding out the country or region that have a better performance within the core content of EUROPLAN. Using the country or region as an example to compare with China’s performance within the rare diseases area, and try to provide a reference for the future structure of rare diseases national plan.① Finding out the core content of EUROPLANAnalyzing the framework and current implementation situation of EUROPLAN, and identifying the core content of EUROPLAN framework.② Comparing the country or region that has a higher level of rare diseases response based on the core content of EUROPLAN frameworkComparing the country or region that has a higher level of rare diseases response based on the EUROPLAN framework, and finding out the country or region that have a better performance within the core content of EUROPLAN as an example.③ Analyzing the performance of the core content of EUROPLAN framework in both China and the exampleAnalyzing China’s and the example’s performance of the core content of EUROPLAN framework, and identify the possible related influencing factors.④ Comparing the performance of the core content of EUROPLAN framework between China and the exampleComparing finding out the different between China and the example in the aspect of the core content of EUROPLAN framework, and analyzing the reason that may cause to these differences, as well as to propose the suggestion of further rare diseases response in ChinaMaterial and methodThe data of this research had been reviewed within the rare diseases network database of each EU member states, the rare diseases network database of Taiwan, the rare diseases network database of the Office of Rare Diseases Research of United States, Japan Intractable Diseases Information Center and Ministry of Health, Labour and Welfare Grants System database of Japan, and the database of National Natural Science Foundation of China.The research method included literature review, descriptive analysis, comparative analysis based on EUROPLAN, and data envelopment analysis.Using the literature review to identify the core content of EUROPLAN framework as the research against rare diseases, using the descriptive analysis and comparative analysis based on EUROPLAN to identify the country or region that have a better performance within the core content of EUROPLAN as Japan, using the descriptive analysis and comparative analysis based on EUROPLAN to compare and analyze the current situation, advantage and disadvantage of China and Japan in the aspect of rare diseases research, using the data envelopment analysis to further compare the efficiency of the research against rare diseases of China and Japan.Main result① The integrated framework against rare diseases in China is still missingBased on the EUROPLAN, the most important aspect of rare diseases response within a country is a integrated framework, which is also the aim of EUROPLAN. However, in China, the integrated framework against rare diseases is still missing. There are gaps between China and other countries in the aspects of policy, definition, catalogue, security system, research, financial support, and etc.② The scientific research against rare diseases is the core part of integrated framework agains rare diseasesBased on EUROPLAN,beside the policy making part, the collection of epidemiological data, researches, and the translation of reaearch’s result is the core part of integrated framework agains rare diseases.The collection of epidemiological data can help to find out the situation and variation tendency of rare diseases, to support the epidemiological research, and to estimate the disease burden and the necessary health resources.The research agains rare diseases can help to gain the knowledge of rare diseases, to develop thediagnosis and treatment methods, to improve the diagnosis and treatment, and to provide basic material.The translation of reaearch’s result can help to improve the management of rare diseases patients,to control the payment for medical care, and to improve the diagnosis and treatment.③ The scientific research against rare diseases in Japan is more completeUsing the EUROPLAN toolbox to compar the scientific research against rare diseases between the countries or regions that have a complete response against rare diseases,the result shows that Japan is better than other countries and regions.The scientific research against rare diseases in Japan has it own characteristic, the project team setting can help to improve the integrate of research resource, the share of research imformation, the continuity of research.The special reimbursement mechanism can help to attract rare disease patient to enter the patient registration system in order to collect the unavailable rare diseases patients data.④ The fund, the management, and the efficiency of research against rare diseases in China still need to be improvedSpecifically, in China, the fund of research is low, the stability of research fund is low, the epidemiologic study and standardization study is missing, and the national research projectagainst rare disesaes is missing. Using the EUROPLAN toolbox to analyze the scientific research against rare diseases in China, result shows that all aspects of scientific research against rare diseases in China is weak. Comparing the efficiency of research against rare diseases between China and Japan, result shows that the the efficiency in China is weaker that in Japan overall.Suggestion① Establishing the rare diseases national plan in order to enhance the ability of respond against rare diseases;The experience of EU shows that an appropriate national plan against rare diseases can help to improve the capacity of rare diseases response, to improve the quality of life of rare diseases patients.Therefore, establishing a suitable rare diseases national plan can help to enhance the capacity of rare diseases response in China. Meanwhile the legislation of rare diseases in China still needs to be promoted.② Increasing the scientific research input in order to promote the diagnosis and treatment against rare diseases;Rare disease research plays an important role in the response of rare diseases.At the moment research aganist rare diseases is lacking, as the research against rare diseases needs to be strengthen. First of all, the funding should be increased in order to carry out more research. Secondly, the stability of funding needs to be ensured.③ Promoting the management of scientific research against rare diseases in order to enhance the completeness and rationality of the research;China’s current rare disease research dispersed in different systems of project funds, so its management is relatively difficult to carry out. Therefore, China may consider learning from international experience, to carry out specific research fund projects for rare diseases in order to improve the management of rare diseases task, and ultimately enhance the rationality of rare disease research in China.④ Regarding the research against the diagnosis, treatment and standardized of rare diseases in order to promote the diagnosis and treatment against rare diseases;The most powerful way to enhance the ability of diagnosis and treatment against rare diseases is clinical research and standardization research, hence we need to put more attention on the aspect of clinical research and standardization research, in order to improve the ability of diagnosis and treatment against rare diseases in China.⑤ Enhancing the efficiency of research against rare diseases in order to make sure the utilization of scientific research input is rational;Since the input resource of China’s rare diseases research is relative low, we need to improve the efficiency of these studies in order to ensure the using of these resource is efficient.⑥ Promoting the security of rare diseases in order to reduce the burden of rare diseases patients and their families;The security system against rare diseases is the most important way of reducing the burden of rare disease, yet the security system in China is still weak. Therefore, we need to enhance the security system against rare diseases in order to reduce the burden of rare disease of rare diseases patient.⑦ Enhancing the international collaborate against rare diseases response in order to promote the capacity of rare diseases response.Because of its "rare" feature, rare diseases research is difficult to carried out by a country’s effort, thus we need to enhance the international cooperation in response against rare diseases, such as sharing of information resources, carrying out joint research projects and so on.Innovations and shortcomingsComparing with the former research, this research has some innovations:① There are few research against the area about rare diseases research worldwide currently. This research used EUROPLAN framework as the only guideline that helps a country or region to create rare diseases response plan issued by a authority in order to find out the important role that research against rare diseases plays within the rare diseases national plan;② This research also used the EUROPLAN framework to analyzed China’s research against rare diseases firstly. And used data envelopment analysis to launch a quantitative comparison between the efficiency of rare diseases research between China and Japan, which is the first study against the efficiency of rare diseases research in China.However, some shortcomings still existed in this research:① The data of this research only contained the data between 2008 and 2010, if the research can contain more data, maybe it can provide more information about how to improve China’s rare diseases research;② The compare of efficiency of rare diseases research between China and Japan in this research only contained research grant, number of project, and the publications based on the limited data, if there are more indexes, maybe able to provide a result that is more comprehensive. |
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