同济医院罗小平：综合医院在罕见病诊治方面有独特价值，优化诊疗还需从平台、组织、机制三方面着力

Core Insights - The forum on rare diseases highlighted the significant challenges in diagnosis and treatment, with approximately 7,000 to 10,000 known rare diseases, 80% of which are genetic, and only about 5% having effective specific treatments [2] - There are over 300 million rare disease patients globally, with an estimated 20 million in China, facing issues such as insufficient research on pathogenic mechanisms, difficulties in early screening, low social acceptance, and inadequate long-term management and payment guarantees [2] Group 1 - The director of the Department of Pediatrics at Huazhong University of Science and Technology emphasized the uneven distribution of diagnostic capabilities across regions in China, leading to a 3 to 5 year gap between consultation and diagnosis for pediatric rare diseases [2] - The multidisciplinary team (MDT) platform in comprehensive hospitals offers integrated care, leveraging advanced adult treatment techniques for pediatric patients and ensuring smooth transitions for patients as they age [3] Group 2 - Tongji Hospital has established a Rare Disease Diagnosis and Research Center, focusing on standardized diagnosis and treatment for 199 rare diseases listed in China's rare disease catalog [3] - The hospital's MDT outpatient service allows patients to receive multidisciplinary evaluations and treatment plans with a single registration, enhancing the efficiency of care [3] Group 3 - Collaboration among research institutions, medical facilities, enterprises, and social organizations is essential for improving rare disease treatment [4] - Strengthening international cooperation and establishing long-term partnerships for joint research and mutual recognition of clinical pathways is crucial [4] - There is a need for a comprehensive support system involving hospitals, communities, families, schools, and employers to enhance social acceptance and improve the quality of life for patients [4]