Xinhua All Media + | sowing the hope of life - all parties work together to promote the improvement of rare disease prevention and treatment capabilities

On December 18, Li Linkang, executive director of the China Rare Disease Alliance, presided over the 2021 China Rare Disease Conference. (Courtesy of the organizer)

The Journal of Rare Disease Research was founded, the Rare Disease Co-assistance Fund of the Red Cross Foundation of China was released, and the Public Welfare Fund of the Central Special Lottery supported the national rare disease diagnosis and treatment level and implementation capacity improvement project to start... At the scene of the 2021 China Rare Disease Conference held in Beijing a few days ago, there was a lot of exciting good news.

There are about 20 million patients with rare diseases in China, and more than 200,000 new patients are added every year. Difficulties in diagnosing, few treatments, and few available medicines have left this growing group in a difficult position.

Since 2018, the relevant departments have been working ceaselessly and wholeheartedly to support the prevention and protection of rare diseases, and to bring hope to patients - health, science and technology, drug supervision, medical insurance, industry and information technology and other departments have worked together to explore a "Chinese model" to solve the problem of rare disease prevention and treatment by formulating a rare disease directory, establishing a national rare disease diagnosis and treatment collaboration network, establishing the China Rare Disease Alliance, strengthening regional collaboration and remote support.

"During the '13th Five-Year Plan' period, China has initially established a national rare disease clinical research collaboration system." Zhang Shuyang, chairman of the Second Expert Committee on Rare Disease Diagnosis and Treatment and Guarantee of the National Health Commission and president of Peking Union Medical College Hospital, introduced that the national rare disease registration platform, the state key laboratory and the National Center for Translational Medicine have supported more than 500 nationwide rare disease collaborative research; two national databases have collected more than 600,000 rare disease patient data, supporting the research on the distribution and disease burden of rare disease patients in China.

"The discipline of rare diseases has formed a collaborative innovation system for rare diseases in the whole life cycle of cohorts, mechanisms, screening, diagnosis and treatment, rehabilitation, management, and the whole process of diagnosis and treatment." Zhang Shuyang said that with the support of this system, breakthroughs have been made in the study of rare diseases in various systems in terms of genetic mechanism, diagnostic markers, clinical classification and pathogenesis.

Rare diseases are a disease area with greater diagnostic challenges and a major public health problem that is common to the world. According to experts, more than 7,000 rare diseases have been found worldwide, about 80% of which are genetic diseases and about 50% of which occur in childhood.

"Doing a good job in the prevention and treatment of birth defect diseases is the key to the prevention of rare diseases." Shen Haiping, deputy director of the Department of Maternal and Child Health of the National Health Commission, said that the incidence of most birth defect diseases is very low, so it is also a rare disease; while about 80% of rare diseases are genetic diseases, and most of them are also birth defect diseases.

In recent years, China has adopted a three-level prevention strategy to prevent birth defects. Through the construction of a birth defect prevention and control network covering urban and rural areas across the country, strengthening the training of birth defect prevention and treatment personnel, and promoting premarital and pre-pregnancy health care, the prevention and treatment of birth defects has achieved remarkable results. According to Shen Haiping, the incidence of severely disabled birth defects nationwide dropped from 17.48 per 10,000 in 2010 to 10.31 per 10,000 in 2019.

"The prevention and treatment of rare diseases should adhere to the principle of prevention." Li Bin, deputy director of the National Health Commission, said that in view of the characteristics of rare diseases that are mostly congenital and hereditary diseases, it is necessary to achieve the threshold forward through marriage examination, obstetric examination, newborn screening, etc., and reduce the incidence of rare diseases and long-term health damage.

Due to the lack of relevant epidemiological data, China's understanding of the incidence of some rare diseases is still limited. The awareness of rare diseases needs to be improved urgently, and rare disease patients also need to receive more attention from the whole society.

"We must continuously strengthen the prevention and treatment of rare diseases with an attitude of being highly responsible for the health of the people." Li Bin said that it is necessary to guide large hospitals to return to the functional positioning of diagnosis and treatment of difficult and serious diseases, encourage more medical staff to pay attention to and engage in the prevention and treatment of rare diseases and improve the awareness and ability of medical humanistic care, and try their best to help rare disease patients and their families establish a correct outlook on life, objectively understand diseases, and bravely face life. (Reporters Tian Xiaohang, Peng Yunjia, Li Heng)