The 15th International Rare Disease Day is coming, on February 26, the Guangdong Rare Disease Diagnosis and Treatment Collaborative Lysosomal Storage Diseases (LSDs) Diagnosis and Treatment Collaboration Group was established in Guangzhou, and 20 core hospitals became the first batch of cooperative group members, aiming to take lysosomal storage disease, a group of diagnosable and treatable rare diseases, as the entry point, and explore the method model of improving the diagnosis and treatment capacity of rare diseases in Guangdong "with points and areas".
This is also the third lysosomal storage disease diagnosis and treatment cooperation group established in China after Jiangsu and Tianjin.
Guangdong Rare Disease Diagnosis and Treatment Collaboration Reticosomal Storage Disease Diagnosis and Treatment Collaborative Group was officially established
Create a "Guangdong model" for the diagnosis and treatment of rare diseases
Lysosomal storage disease is a group of rare hereditary metabolic diseases, including Pompeii disease, Gaucher disease and Fabre disease, etc., and its effective enzyme replacement therapy drugs have been approved for marketing in China, which is one of the few rare diseases that can be diagnosed and treated. However, like most rare diseases, due to the lack of public awareness of the disease, grass-roots doctors have little corresponding diagnosis and treatment capabilities, and patients often do not receive timely and accurate diagnosis and treatment, and the condition is delayed.
In the case of Pompeii disease, more than 80% of patients have been misdiagnosed, and more than 90% need to go through multiple hospitals to be diagnosed. 42.4% of patients need 1-5 years to be diagnosed, 13% of patients need 6-10 years, and 2.2% of patients need more than 10 years to finally diagnose. Patients who do not receive timely and effective early diagnosis and normative intervention can be disabling or life-threatening. Therefore, how to improve the ability of grass-roots doctors to diagnose and treat rare diseases has become a difficult problem facing the prevention and treatment of rare diseases on the mainland.
In 2019, with the support of the Guangdong Provincial Health Commission, the Guangdong Rare Disease Diagnosis and Treatment Collaboration Network was established, and a smooth and perfect collaboration mechanism was established to conduct relatively centralized diagnosis and treatment and two-way referral of rare disease patients in Guangdong Province. Today, 25 hospitals have participated in the work of the Guangdong Rare Disease Diagnosis and Treatment Collaboration Network. As of October 2021, The medical institutions of the collaboration network have registered 14,250 cases in the "China Rare Disease Diagnosis and Treatment Service Information System".
Inspector Chen Li of Guangdong Provincial Health Commission
Chen Li, inspector of the Guangdong Provincial Health Commission, said that the lysosomal storage disease diagnosis and treatment cooperation group established this time is one of the six rare disease single disease diagnosis and treatment cooperation groups first established in the province, marking that the prevention and treatment of rare diseases in Guangdong Province is gradually refining and landing, innovating the working mechanism, and creating a "Guangdong model" for rare disease diagnosis and treatment.
Professor Huang Haiwei, leader of the Guangdong Rare Disease Diagnosis and Treatment Collaboration And Treatment Collaboration On the Diagnosis and Treatment of Lysosomal Storage Disease and The Department of Neurology of the First Affiliated Hospital of Sun Yat-sen University, pointed out that the Department of Neurology of the First Affiliated Hospital of Sun Yat-sen University is a national clinical key specialty and a national regional medical center for neurological diseases. Relying on this, in conjunction with 20 medical institutions in the province, the Guangdong Rare Disease Diagnosis and Treatment Collaborative Reticulosomal Storage Disease Diagnosis and Treatment Collaborative Group will be established, which will form a "provincial-municipal-district" three-level expert linkage system, establish the diagnosis and treatment specifications of each disease and the patient referral mechanism, fully integrate the collaboration network and the resources of the expert team of each disease, and protect the rights and interests of patients. "The establishment of the collaborative group can help further alleviate the three major problems of 'difficult diagnosis, difficult treatment and difficult management' of current patients, which is of breakthrough milestone significance for the improvement of rare disease diagnosis and treatment capabilities in Guangdong Province and even the whole country and the long-term benefits of local patients."
Guangdong Rare Disease Diagnosis and Treatment Collaboration Reticosomal Storage Disease Diagnosis and Treatment Collaboration Group Leader, Professor Huang Haiwei of the Department of Neurology, First Affiliated Hospital of Sun Yat-sen University
Local exploration guarantees the last mile of medication
In February 2019, the General Office of the National Health Commission issued a notice on the establishment of a national rare disease diagnosis and treatment collaboration network, selected 324 hospitals to form a rare disease diagnosis and treatment collaboration network, and clarified the division of responsibilities and management mechanisms including the establishment of a collaboration mechanism, the implementation of standardized diagnosis and treatment, and the strengthening of quality control to promote the development of rare disease diagnosis and treatment in China.
Under the guidance of this policy, the China Lysosomal Storage Disease Diagnosis and Treatment Capacity Building Project (STEP Project) also came into being. In October 2020 and March 2021, Jiangsu Province and Tianjin Municipality respectively established a local lysosomal storage disease diagnosis and treatment cooperation group, and set up a multi-level linkage management working group and a clinical diagnosis and treatment expert team for diseases to formulate and implement corresponding diagnosis and treatment norms, and empower grass-roots doctors to strengthen the ability to screen, diagnose, treat and manage such diseases. The Guangdong Provincial Lysosomal Storage Disease Diagnosis and Treatment Collaborative Group is the third provincial-level diagnosis and treatment cooperation group established under the support framework of this project.
Today, the STEP project has achieved initial results. Taking Jiangsu Province as an example, with the development of the work of the diagnosis and treatment collaboration group, a number of rare disease patients have benefited from the system, and have been diagnosed and treated in a timely manner, and after the local grass-roots hospital finds suspected cases of rare diseases, it will immediately communicate with the leading hospital of the cooperation group, and the leading hospital will assess the patient's situation, and then carry out corresponding diagnosis and follow-up treatment guidance.
Li Linkang, executive director of the China Rare Disease Alliance, said: "After Jiangsu and Tianjin, Guangdong Province has also established a lysosomal storage disease diagnosis and treatment cooperation group, which is another breakthrough in the prevention and treatment of rare diseases in the country. It is expected that this model can be extended to more and more provinces, promote the early detection and early diagnosis of rare diseases, help doctors to treat and manage, comprehensively improve the level of prevention and treatment of rare diseases in the mainland, and benefit more patients! ”
Li Linkang, Executive Director of the China Rare Disease Alliance
In addition to promoting the construction of comprehensive diagnosis and treatment capabilities for rare diseases in the province, relevant departments in Guangdong Province are also exploring innovative ways to alleviate the problems of rare disease patients. At this year's two sessions of Guangdong Province, deputies and members submitted a proposal to "establish a special pooling fund for the protection of drugs for rare diseases in Guangdong Province". At the same time, based on their own actual conditions, all parts of Guangdong Province have actively explored regional rare disease protection models, such as inclusive commercial health insurance that is guided by the government, market-led, and effectively linked with the city's social medical insurance: Sui Shi Kang in Guangzhou, Ping An Buddha in Foshan, etc., which provide protection for the medication of rare disease patients.
The diagnosis and treatment of rare diseases and the payment link coexist and are one with each other. Exploring the establishment of a rare disease drug guarantee mechanism, integrating medical security, policy-based commercial health insurance, social assistance, charitable assistance and other resources, to achieve a multi-level comprehensive guarantee model for rare disease drugs, will also help solve the problem of rare disease diagnosis and treatment, and then improve the sustainable development ecosystem of rare diseases and help China's rare disease prevention and treatment cause.
[Reporter] Yan Huifang
【Author】 Yan Huifang
Healthy living circle