关键词: 罕见病, 全科医生, 全程管理

Abstract: Rare diseases, characterized by low prevalence and significant challenges in diagnosis and management, have increasingly gained attention in recent years due to advancements in medical technology. As gatekeepers of health and managers of patient and family health, general practitioners in many countries are now being integrated into the framework for managing rare diseases. The article discusses the current status of general practitioners in the diagnosis and management of rare diseases, including their role in the management process, efforts made, and the lack of knowledge about rare diseases. It highlights that despite challenges in recognizing rare diseases, most general practitioners are willing to improve their awareness and training. They can effectively participate in the comprehensive management of patients with rare diseases, playing a vital role in early identification, coordinating treatment, and providing integrated services.

Key words: Rare diseases, General practitioners, Comprehensive management