Recently, the “Project of Enhancing Rare Disease Diagnosis and Treatment Capabilities Supported by the Central Government’s Public Welfare Lottery Fund” was launched. It is a project led by PUMCH, in conjunction with hospitals in the National Rare Disease Diagnosis and Treatment Collaborative Network, and implemented with the assistance of the China Alliance for Rare Diseases. With the guidance of the National Health Commission and sponsored by the Central Government’s Public Welfare Lottery Fund under the Ministry of Finance, the project is aimed at further improving the clinical diagnosis and treatment of rare diseases in China and easing the financial burden of families with rare diseases. The project will provide free genetic testing for patients with rare diseases, fund multidisciplinary treatment for rare disease cases in hospitals within the collaborative network, and support medical training for rare disease doctors, ultimately to improve the diagnosis, treatment and implementation capabilities regarding rare diseases nationwide in a patient-centered and all-round manner.

Confronted with the low diagnosis rate, poor treatment capability and lack of treatment drugs for rare diseases in China, PUMCH took the lead, together with the China Alliance for Rare Diseases, in actively communicating with the National Health Commission and applying for special funding from the Ministry of Finance to support the improvement of diagnosis and treatment capability of rare diseases in China. The project is highly valued by the Ministry of Finance. From 2021 to 2025, the Ministry of Finance will allocate, via the Central Government’s Public Welfare Lottery Fund, 322 million yuan, which will fund genetic testing of more than 40,000 rare disease patients and their lineage, support multidisciplinary diagnosis and treatment of more than 9,000 complicated and difficult cases, and conduct 825 training sessions for doctors on rare disease diagnosis and treatment capabilities.

Under the guidance and supervision of the Ministry of Finance and the National Health Commission, the project will be led by PUMCH, and jointly implemented by China Alliance for Rare Disease, with the participation of 323 hospitals within the national rare disease diagnosis and treatment collaborative network. In February 2019, the official website of the National Health Commission published the “Notice of the General Office of the National Health Commission on the Establishment of the National Rare Disease Diagnosis and Treatment Collaborative Network” and announced the list of 324 hospitals within the network, including PUMCH, which offer free genetic testing for rare disease patients.

Written by: The Office of the National Rare Disease Diagnosis and Treatment Collaborative Network

Translator: Liu Haiyan

Editor: Wang Yao