"Medical Orphans"-How far are rare diseases from us?

　　Xinhua News Agency, Beijing, October 28th, title: "Orphans of Medicine"-How far are rare diseases from us?

　　Xinhua News Agency reporters Chen Cong and Zhao Dandan

　　Gradual freezing syndrome, "glass man (hemophilia)", "puppet man (multiple sclerosis)"... Rare diseases are often referred to as problems such as high misdiagnosis, high missed diagnosis, and difficult medication due to fewer clinical cases and less experience As the "orphan of medicine."

The World Health Organization defines a rare disease as a disease or disease in which the number of patients is between 0.065% and 0.1% of the total population.

At present, there are about 7,000 rare diseases recognized internationally. There are more than 20 million rare diseases in my country, and more than 200,000 new patients are added every year.

　　How far are rare diseases from us?

Can a more effective treatment plan be explored?

At the 2020 China Rare Disease Conference held a few days ago, relevant experts gave answers.

　　According to Sui Binyan, a researcher at the Health Development Research Center of the National Health Commission, about 80% of rare diseases are caused by genetic defects.

There are about 5 to 10 genetic defects in each person. Once both parents have the same genetic defect, they may give birth to a child with a rare disease.

Although this probability is only 1 in 10,000 or even lower, it is 100% probability for the families and patients encountered.

　　"At the same time, rare diseases generally have the characteristics of heredity, childhood onset, and serious illness, lack of epidemiological data, limited diagnosis and treatment methods, difficult from diagnosis to treatment, and a high rate of misdiagnosis and missed diagnosis." Sui Binyan said. , Rare diseases are not far away from you and me. As long as there is a life heritage, there is the possibility of rare diseases. Paying attention to rare diseases is paying attention to our future.

　　How to advance the prevention and treatment of rare diseases and improve the quality of life of patients with rare diseases?

Sui Binyan said that we have four initiatives to promote the prevention and treatment of rare diseases: early diagnosis and treatment, social support, incentive research and development, and medical security.

　　Sui Binyan said that early detection and early intervention are the best ways to prevent and treat rare diseases.

In addition, the physical and mental suffering caused by rare diseases to patients and their families is huge, and the society is in urgent need of support in life, medical treatment, and psychology to provide assistance for the enrollment and employment of rare disease patients.

　　In terms of drug development and medical security, Sui Binyan said that society should support the government to formulate special orphan drug incentive policies to promote more rare disease patients to obtain effective treatments.

At the same time, the industry and relevant parties should form a joint effort to enable patients with rare diseases to obtain sustainable medical protection.

　　The National Rare Disease Diagnosis and Treatment Collaboration Network established in 2019 has provided strong support for the diagnosis and treatment of rare diseases in my country.

Zhang Shuyang, Secretary of the Party Committee and Vice President of Peking Union Medical College Hospital, said that the National Rare Disease Diagnosis and Treatment Network has enabled the implementation of the two-way referral and remote consultation system for rare diseases. Multiple disease types have formed cooperative groups and research cohorts across the country. Rare disease knowledge bases and auxiliary development tools allow more patients to achieve early diagnosis, and allow more doctors to have templates to read and guidelines to follow.

　　At present, in many rare diseases, less than 10% of the diseases have therapeutic drugs, such as Gaucher disease, Pompe disease, etc. Most rare diseases are in a state of no cure.

Sui Binyan pointed out that from the perspective of drug research and development alone, the small number of patients with rare diseases, the small market capacity, and the low return on commercial investment have led to the lack of motivation for pharmaceutical companies to develop drugs for rare diseases.

　　The State Council executive meeting held in February 2019 pointed out that strengthening the prevention and treatment of major diseases such as cancer and rare diseases is related to the well-being of hundreds of millions of people.

　　To promote the prevention and treatment of rare diseases, relevant ministries and commissions are taking action.

Ma Xiaowei, director of the National Health Commission, said that the National Health Commission and related departments issued the first batch of rare disease catalogs, clarifying the concept and scope of rare diseases in my country, and delineating the scope of management; establishing a national rare disease diagnosis and treatment collaboration network, Established a two-way referral and remote consultation system for rare diseases in the collaborative network; carrying out direct reporting of rare disease cases, issuing rare disease diagnosis and treatment guidelines, and continuing training, providing a full range of policy measures to improve my country's rare disease diagnosis and treatment capabilities.

　　Wang Jiangping, Vice Minister of the Ministry of Industry and Information Technology, introduced that in terms of guiding enterprises to develop drugs for rare diseases through policies, relevant departments have issued implementation plans for major innovative development projects of proteins and other biological drugs and vaccines and guidelines for the development of the pharmaceutical industry. Drugs are listed as key support objects.

In addition, rare disease drugs are listed as key monitoring and guarantee supply targets, rare disease drugs industrialization projects are included in the scope of special support for industrial transformation and technological transformation, and rare disease drugs that are urgently needed clinically are included in the key tasks of engineering research.

In the next step, the Ministry of Industry and Information Technology will do more in mobilizing the enthusiasm of scientific research institutions and manufacturers to develop drugs for rare diseases, and cooperating with multiple parties to study and formulate incentive policies for drugs for rare diseases.