How is the predicament of rare diseases in China broken?
February 28, 2015 Source: Health
Window._bd_share_config={ "common":{ "bdSnsKey":{ },"bdText":"","bdMini":"2","bdMiniList":false,"bdPic":"","bdStyle":" 0","bdSize":"16"},"share":{ }};with(document)0[(getElementsByTagName('head')[0]||body).appendChild(createElement('script')) .src='http://bdimg.share.baidu.com/static/api/js/share.js?v=89860593.js?cdnversion='+~(-new Date()/36e5)];There is no clear definition of rare diseases in China
Rare diseases are also known as "orphans", and countries around the world have certain differences in the criteria for identifying rare diseases according to the specific conditions of their own countries. For example, the United States defines a rare disease as a disease with fewer than 200,000 patients per year (or a population of less than 1/1500); Japan requires fewer than 50,000 patients with rare diseases (or a population of 1) The disease of /2500), Taiwan, has a morbidity rate of less than 1 in 10,000 as a standard for rare diseases, and there is no clear definition in China.
80% of rare diseases are caused by genetic defects
Although the incidence of rare diseases is relatively low, there are many types, and there are more than 7,000 kinds of rare diseases recognized internationally, accounting for about 10% of human diseases. More than 80% of rare diseases are caused by genetic defects and are hereditary. It is estimated that there are about 10 million rare patients in China. Because of the low incidence of rare diseases, relatively scattered, and often lack of effective diagnosis and treatment, there is little interest from commercial companies, research institutions, researchers or clinicians. This has led to the plight of clinicians who can't help doctors with rare diseases. Rare diseases are a problem in the world. It is more difficult to solve this problem in China. There is no solution, but there are too many problems and challenges. Personally, the following are the issues we must solve.
Admission and fees for new technologies
Admission and charging of new technologies: a wide variety of rare diseases, the cause and complexity, the diagnosis may require the use of various "OMICS omics" means, especially various molecular genetic techniques, such as whole genome sequencing, exons Sequencing and the like. If the diagnosis and prenatal diagnosis of each rare disease requires the approval of the US FDA or the Chinese FDA for various equipment and reagents, it is Mission Impossible (impossible task). The problem is not just as simple as the approval of equipment and reagents. Even if the approval is passed, the fee for applying for these technologies in China is another insurmountable mountain. If there is no charge, who will pay for the expenses of the medical institution of the research institute? How can it be sustainable?
LDT mode
LDT: LDT (Lab Developed Test) is an institutional arrangement for biotechnology innovation and solving similar rare diseases in the United States. Many rare disease diagnostic reagents or methods are not approved by the FDA, not testing. The clinical significance is not great, but because the number of rare cases is small, the reagent manufacturer's input-output ratio is too low, and it is not willing to commercialize it. With the LDT system, licensed laboratories can develop their own technologies and reagents for the diagnosis of rare diseases and conduct clinical diagnosis of rare diseases without waiting for the FDA's lengthy approval. Therefore, it is strongly urged that the Chinese FDA can also establish a similar mechanism in China to encourage technological innovation and solve the diagnostic dilemma of rare diseases !
Establishment of a clinical geneticist and genetic counselor system
The establishment of a system of clinical geneticists and genetic counselors: With the rapid development of molecular genetics technology, the genetic laboratory will issue a very large amount of laboratory reports containing a lot of clinically uncertain information for each patient. How should the room report be interpreted? How to further diagnose and clinically treat patients? In Europe and the United States, there are specially trained clinical geneticists and genetic counselors to conduct genetic counseling for patients, but there are no such professional systems in China. In China, people engaged in genetics research, human genetics, medical genetics, clinical genetics, people who do genetic research do not understand clinical, clinical people do not understand genetics technology, and do not understand clinical genetics. Therefore, the faster the development of Chinese genetics, especially molecular genetics technology, the more confusion that patients and clinicians bring, it is time to formally establish these two disciplines in China and train relevant professionals. Otherwise, it is impossible to provide correct clinical advice to patients with genetic diseases, especially those with rare diseases.
Clinical guidelines and expert consensus
Clinical guidelines and expert consensus: For modern medicine, clinical guidelines or expert consensus with evidence-based medical evidence are particularly important, especially for rare diseases. We hope that Chinese professional academic organizations can quickly develop clinical guidelines or expert consensus with evidence-based medical evidence in line with China's national conditions, and end the current situation in China without clinical genetics professionals and without relevant clinical practice guidelines. .
Strong NGO
Powerful NGO (Patient Advocate): The biggest motivation for solving rare disease problems is generally not from the government, nor from medical institutions and medical staff. TAs have too many things to do, there are too many places. Need to spend money. According to foreign experience, the biggest motivation for solving this problem often comes from the private sector, from rare diseases NGOs and Patient Advocate (non-governmental organizations and patient rights organizations). I am very pleased to see that China also has NGOs with rare diseases, such as the "China Rare Diseases Alliance" and other individual patient organizations with rare diseases. I sincerely hope that TAs can grow healthily and gain more opportunities for rare diseases.
charity fund
Charitable funds: Even in developed countries, rare diseases are a problem, and the government cannot make a big deal to solve them. Various charitable foundations from the private sector have become the main force to solve similar problems. Unfortunately, the number of Chinese charitable funds is still relatively small, and the ability to raise funds is still relatively weak. BUT: Something is better than nothing! We expect to see more charitable funds appear and more charitable funds to focus on and support rare diseases.
For rare diseases, although there are many problems and there are many insurmountable obstacles, we should not sit idly by. In 2015, our Shanghai First Maternal and Child Health Hospital will launch a “rare disease platform†construction project with the goal of establishing a A unified “rare disease†technology development platform, research platform, diagnosis and treatment platform, expert platform and referral channel. This will be an open platform. We welcome all kinds of diagnostic reagent companies, biodiagnostic companies, biopharmaceutical companies, scientific research institutions, medical institutions, NGOs and patient rights organizations, charitable foundations, and rare ill-related diseases to cooperate with us to make rare diseases. Patients should not go nowhere.
About International Rare Disease Day
Rare Disease Day was launched in 2008 by the European Organization for the Advancement of Rare Diseases (EURORDIS) to determine February 29 as the International Rare Disease Day. This four-year-old day is a rare occurrence of rare diseases. After that, all countries agreed to set the last day of February each year as "International Rare Disease Day". This year's International Rare Disease Day is February 28th. This article is written to appeal to governments, pharmaceutical companies, research institutions, medical institutions, charitable funds, and various NGOs to care for and value rare diseases.
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