The Development of Guidelines for Rare Diseases: Past, Present and Future

Although the incidence of rare diseases is extremely low, 6% to 8% of the global population are affected by more than 7000 rare diseases. Rare diseases guidelines are playing an increasingly important role as guiding documents in improving the health outcomes of patients with rare diseases. Therefore, we aim to systematically elaborate on the status quo, challenges and opportunities of rare disease guidelines at home and abroad, and put forward thoughts and suggestions on promoting the development of rare diseases guidelines in the future.