High Misdiagnosis Rate, Long Diagnosis Time And Low Cognition Of Doctors: Where Is The Way Out For Diagnosis And Treatment Of Rare Diseases?

Rare diseases are rare, and doctors who can diagnose and treat rare diseases are even rarer.

On the afternoon of October 31, Mr. Li Linkang, executive director of China rare diseases alliance, briefly introduced the current situation and challenges of rare diseases diagnosis and treatment in China, and emphasized the importance of multidisciplinary consultation. Li Linkang pointed out that China's diagnosis and treatment of rare diseases are facing six major challenges: lack of epidemiological knowledge of rare diseases, shortage of diagnosis and treatment drugs and technologies, lack of standardized referral mechanism, lack of standardized diagnosis and treatment process, low awareness of rare diseases by doctors, and lack of multidisciplinary diagnosis and treatment mechanism.

Referring to the biggest challenge, Li Linkang said in an interview with the 21st century economic report: "the biggest problem is the low level of doctors' cognition. At present, the number of doctors who can timely diagnose various rare diseases is less than the number of patients with rare diseases. The incidence of rare diseases is very low, and doctors seldom see patients with rare diseases. Some doctors have not seen rare diseases, so they lack awareness of rare diseases

At the same time, the medical insurance of rare disease drugs has been concerned. In this regard, Dr. Xia Sujian of Jinan University introduced the burden of patients with rare diseases in Guangdong Province, and took Pompeii disease as an example to calculate the annual expenditure of medical insurance. It is hoped that the government will attach great importance to the patients with rare diseases caused by diseases, and give priority to solving the medical security problems of preventable and curable rare diseases, improve the information registration of patients with rare diseases, and actively explore and establish a risk sharing mechanism for high-value and rare diseases.

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Challenges in diagnosis and treatment of rare diseases

Rare disease, also known as "orphan disease", is a kind of disease with very low incidence and prevalence, and is mostly congenital genetic disease. Due to the small number of patients with single disease, the scientific research and clinical diagnosis and treatment of rare diseases are difficult, and the lack of effective treatment means and low industrial attention.

In fact, for rare diseases, different countries have different definitions. At present, there are more than 7000 rare diseases in the world. Most patients with rare diseases will die without intervention and treatment. However, 95% of rare diseases do not have appropriate treatment drugs, and even if they are treatable, the treatment cost is high, and most of them still need lifelong treatment.

According to the estimation of relevant institutions, there are about 20 million patients with rare diseases in China, with an annual increase of more than 200000. Some rare diseases that can be treated often cost hundreds of thousands to millions of annual treatment costs. As a result, some patients with rare diseases become poor and return to poverty due to illness.

However, the biggest challenge in the diagnosis and treatment of rare diseases is still the lack of awareness of rare diseases. According to the comprehensive social survey report on rare diseases in China in 2019, 42% of patients in the world said they had been misdiagnosed, 40% of patients had been diagnosed for more than one year, and 70% of doctors thought they did not know about rare diseases. It is understood that more than 20000 patients, more than 50000 doctors and more than 70 patient organizations participated in the survey report.

Thus, patients with rare diseases are facing various severe challenges in the process of diagnosis and treatment. Among them, the problems of difficult diagnosis and high misdiagnosis rate of rare diseases are prominent. At the same time, it also exposes the current situation of the industry that few doctors understand rare diseases and doctors lack knowledge of rare diseases.

Taking Gaucher's disease, a rare disease, as an example, Li Linkang told the 21st century economic news reporter, "one of the obvious symptoms of Gaucher's disease is splenomegaly, and its diagnosis requires an enzyme detection process. If the surgeon doesn't know that the test can diagnose a rare disease, he may operate on the patient as soon as he sees a large spleen. And surgery is of no use to this patient. If these doctors know about rare diseases, they may consider rare diseases. "

Li Linkang said that at present, there are still some problems in China, such as insufficient diagnosis and treatment capacity of rare diseases, unbalanced distribution of diagnosis and treatment resources, lack of therapeutic drugs, high price of some drugs, and lack of research and innovation ability. These problems are the problems that need to be solved in the process of deepening medical reform in China.

In addition, Kong Yan, director of the Shenzhen Municipal Bureau of human resources and social security, told reporters including the 21st century economic report that the Shenzhen municipal government has a "big gift package" policy for the introduction of innovative drugs, and gradually established a multi-level and multi-directional security system to form a pharmaceutical free port. Xia Sujian stressed that the government should play a leading role in the protection of high-value and rare disease drugs and give every citizen The right to health.

In this regard, Li Linkang mentioned that the "last kilometer" of rare diseases lies in how to make the patients use and afford medicine. "Rare diseases are a special group. In the past, we didn't pay enough attention to rare diseases, and we didn't know the basic data of rare diseases, such as how many patients with Gaucher's disease in China. A lot of changes have taken place in recent years, but in fact, the medical insurance sector has not stopped paying attention to this special group. "

What is the way out for the diagnosis and treatment of rare diseases?

At present, China's prevention and control of rare diseases has achieved initial results, but restricted by the level of economic and social development, the management of rare diseases is still in its infancy, and the situation of rare disease prevention and control is still grim.

The standardized registration and classification of rare diseases is the key to improve the level of diagnosis and treatment of rare diseases.

On May 24, 2018, the National 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 released the first batch of rare diseases list, involving 121 rare diseases such as Gaucher's disease, Pompeii's disease and Fabry's disease.

The publication of the list provides reference and basis for medical and health institutions across the country to carry out prevention, screening, diagnosis, treatment and rehabilitation of rare diseases, as well as formulate relevant scientific and technological research and development, social security, medical assistance policies and other related work.

According to Li Linkang, "the list of rare diseases in the second batch" will be updated soon.

Li Linkang also introduced the "China national registration system for rare diseases" led by Peking Union Medical College Hospital, which provides registration channels for rare diseases, and provides valuable rare patient group samples for exploration of biological mechanism of rare diseases, clinical epidemiology research, new drug research and development, and innovative diagnosis and treatment technology development. As of October, 58945 cases had been registered.

It is worth mentioning that the number of rare disease cases registered in Shandong, Sichuan and Hebei Province is temporarily ranked among the top three by the 21st century economic report reporter browsing the official website of the registration system. So far, there are 7729 cases of rare diseases in Shandong Province, which is much higher than 4219 cases in Sichuan Province.

To strengthen the prevention and treatment of rare diseases, Li Linkang believes that the establishment of a rare disease classification diagnosis and treatment cooperation system is one of the important aspects. Rare diseases due to the small number of single disease cases, objectively lead to the lack of relevant diagnosis and treatment experience of most doctors. Therefore, the emergence of rare disease patients blindly turn to seek medical treatment, some patients spend several years or even more than ten years to diagnose, miss the best treatment window.

The establishment of rare disease grading diagnosis and treatment cooperation system can clear the path of rare disease patients, reduce blind seeking medical treatment, and greatly shorten the time spent in diagnosis. "Next, relying on the national rare disease diagnosis and treatment cooperation network, we will select the units with outstanding rare disease diagnosis and treatment ability, excellent organizational leadership ability and strong sense of social responsibility as the main body, and establish national and regional medical centers for rare diseases. We should give full play to the radiation and driving role of high-quality medical resources, quickly form a collaborative system of rare disease grading diagnosis and treatment, and solve the problem of difficult diagnosis of rare diseases. "

On the other hand, give full play to the role of policy guidance. "Rare diseases are rare, and doctors who can diagnose and treat rare diseases are even rarer.". Part of the reason for this phenomenon is that the diagnosis and treatment of rare diseases is relatively difficult and the number of patients is small, which leads to the majority of medical staff choosing common diseases and frequently occurring diseases. In turn, it has led to overcrowding in large hospitals and tertiary hospitals, and most of them are common diseases and frequently occurring diseases that can be solved by primary hospitals.

As chairman of the China rare diseases alliance, Li Linkang also introduced the measures taken by the China rare diseases alliance to strengthen the prevention and treatment of rare diseases. First, prevention should be given priority to, and the construction of rare disease prevention and control system should be steadily promoted; second, textbooks, guidelines and consensus should be compiled to promote standardized and homogeneous diagnosis and treatment; third, rare diseases training should be carried out nationwide to improve diagnosis and treatment ability; The fourth is to carry out multi-disciplinary consultation mode of rare diseases and strengthen the collaborative diagnosis and treatment of various departments; the fifth is to carry out remote consultation, promote hierarchical diagnosis and treatment, and realize localized management.

In this regard, Li Linkang suggested that the health and health departments should include the diagnosis and treatment of rare diseases into the scope of hospital grade evaluation and performance evaluation of public hospitals, so that hospitals at all levels can gradually clarify their own functional positioning, let large hospitals and tertiary hospitals return to the main attribute of difficult and severe diseases and rare diseases, guide more medical personnel to pay attention to and engage in rare disease diagnosis and treatment, and effectively improve the diagnosis and treatment of rare diseases in China Ability.