On August 19, 2022, the kick-off meeting of the National Standardized Rare Disease Diagnosis and Treatment Center project was held in PUMCH. He Wei, vice chairperson of the National Committee of the Chinese People’s Political Consultative Conference (CPPCC) and executive vice-chairman of the Central Committee of the Chinese Peasants and Workers Democratic Party, attended and spoke at the meeting. Through building a national standardized and homogeneous rare disease diagnosis and treatment collaborative center, the project aims at creating a sustainable system for rare disease diagnosis, treatment and research and improving China’s expertise in this regard in all aspects.

Vice Chairperson He Wei pointed out that on top of the sound medical services for frequently-occurring and common diseases, breakthroughs in the diagnosis, treatment and research of rare diseases will become a clear sign of China’s healthcare modernization; PUMCH has played an irreplaceable role in leading, demonstrating and driving the development of rare disease diagnosis and treatment in China, and the establishment of a national standardized rare disease diagnosis and treatment center led by PUMCH will divert more high-quality resources to community levels and promote the construction of a healthy China. He made three suggestions for the center: first, focus on collaboration and build mechanisms to promote capacity building at the community level for rare disease diagnosis and treatment; second, focus on innovation, seek breakthroughs, and pay attention to the development and application of new therapies and new diagnostic methods; third, focus on diagnosis and treatment, seek preventive care, and establish a rare disease prevention model in line with China’s national conditions.

In recent years, the Party and the State have attached great importance to rare disease patients and introduced many policies in the spirit of “not giving up any small group”. The rare disease diagnosis and treatment, research and medical insurance coverage have been developing by leaps and bounds, but many patients still face “difficulties in accessing affordable medical services”. Effective prevention and treatment of rare diseases is an important part of the construction of a healthy China, thus it is imperative that we comprehensively improve the capabilities of primary care institutions and establish standardized and homogenized rare disease treatment centers.

The National Standardized Rare Disease Diagnosis and Treatment Center, supported by one national center, the PUMCH Rare Disease Diagnosis and Treatment Center, will set up 50 key cultivation centers nationwide, including those in municipal hospitals in central and western China, to build a national standardized rare disease diagnosis and treatment demonstration system in pursuit of  three major tasks: tiered diagnosis and treatment featuring multidisciplinary collaboration, capability training and health education. With the help of cutting-edge information technology such as 5G and AI, the initiative will improve the capability of primary care institutions, build a PUMCH standard diagnosis, treatment and education alliance for rare diseases with a national reach, improve the performance of community-level regional centers, and explore the mechanism for diverting high-quality medical resources to lower-tiered places to truly benefit rare disease patients. In the process of building the National Standardized Rare Disease Diagnosis and Treatment Center, PUMCH will focus on accelerating the translation of scientific and technological innovation, cultivating talents with greater intensity, and promoting the construction of a rare disease diagnosis and treatment management system, and engaging various parties so that rare disease patients can receive more help and assistance.

Group picture of leaders present

Reporter: Chen Xiao

Picture courtesy: Sun Liang

Translator: Liu Haiyan

Editor: Wang Yao