Abstract
BACKGROUND: As medical advancements continue and public health levels rise, increasing attention is being paid to the diagnosis and treatment of rare diseases. Given its large population, China's efforts in enhancing overall clinical abilities for rare disease diagnosis and treatment are crucial. However, young physicians still face significant challenges in their professional capabilities in this field. METHODS: Based on interviews with young physicians and medical education experts from rare disease diagnosis and research institutions, this study explored systematic approaches to cultivating and enhancing the expertise of young Chinese physicians in rare disease diagnosis and treatment, along with the necessary support systems. RESULTS: By thematic analysis, we identified six effective training models: (1) mentorship teaching, (2) specialized training systems, (3) integration of rare disease knowledge into standard curricula, (4) continuous education and career path planning, (5) application of information technology, and (6) institution-supported international collaboration. We also discussed critical implementation challenges such as resource intensity and interdisciplinary friction. CONCLUSION: Based on these findings, we proposed a series of targeted strategies and recommendations. This study provided valuable experiences for young physicians in clinical and research institutions nationwide, thereby improving the overall level of rare disease diagnosis and treatment.