Optimizing regional rare disease management systems within China’s policy framework: practical insights from the shantou experience

Rare diseases refer to those that have an extremely low incidence within a specific region or population and are frequently hereditary, chronic, severe, and disabling. Globally, approximately 7,000 distinct rare diseases exist, affecting the health and quality of life of over 300 million individuals. In China, patients with rare diseases are in an especially critical predicament, confronted with multiple challenges such as difficult diagnoses, unclear treatment options, high costs of drug treatment, and insufficient social support systems. The presence of these issues not only exacerbates the physical and mental burden of patients but also has a profound influence on their families and society. Therefore, enhancing the diagnosis and treatment level of rare diseases, improving the social security system, and reducing the economic pressure on patients have become urgent matters in the current medical and health domain in China. Through an in-depth analysis of relevant policies and research in China, we reach the conclusion that the four key challenges encountered in the treatment of rare diseases in China are: Incomplete social support system, Imperfect healthcare services, Incomplete medical insurance and Inadequate access to medicines. Next, this paper takes the “Shantou Experience” extracted from the practice of rare disease diagnosis and treatment by the First Affiliated Hospital of Shantou University Medical College as a case to discuss the innovative measures adopted in optimizing the management mode and treatment methods of rare disease drugs. It also summarizes three major problems that urgently need to be solved in the treatment of rare diseases in China, with the aim of providing a reference for further enhancing the medical security system of rare patients. This paper comprehensively summarizes four major challenges confronted by China in the domain of rare disease diagnosis and treatment, and elaborates on the practice of “Shantou Experience” in enhancing the accessibility of rare disease drugs and innovating rare disease medical models. Meanwhile, the paper also proposes three perspectives on the future development direction of rare disease treatment in China.