Knowledge and awareness of rare diseases among healthcare professionals: a scoping review

Abstract Background Rare diseases affect millions globally but remain poorly understood due to low prevalence and fragmented healthcare responses. Patients face long diagnostic delays, known as the “diagnostic odyssey”, due to limited knowledge and awareness among healthcare professionals. This scoping review examines healthcare professionals’ knowledge and awareness of rare diseases. Findings highlight critical educational and systemic gaps across disciplines. Addressing these deficits is essential to improve early recognition, care coordination, and health outcomes for rare disease populations. Methods This scoping review followed Arksey and O’Malley’s five-stage framework, enhanced by the Joanna Briggs Institute (JBI) methodology and PRISMA-ScR guidelines. The review mapped existing literature guided by the PCC framework. A comprehensive search strategy was developed and executed across four databases, CINAHL, Medline, PubMed, and Scopus, along with grey literature sources. After removing duplicates, 4539 records were screened, and 25 studies met the inclusion criteria. Data was charted and synthesised thematically using an inductive approach to identify key findings and gaps in professional education and awareness. Results Twenty-five studies from 2015 to 2025 were included, spanning diverse countries and healthcare professions. Most used cross-sectional surveys to assess knowledge, awareness, and confidence regarding rare diseases. Overall, healthcare professionals demonstrated limited knowledge, poor familiarity with rare disease definitions, and low use of specialist resources. Variability was observed across professional groups, with general practitioners and nurses demonstrating lower knowledge than specialists. Education and training were widely reported as insufficient, with gaps evident across both undergraduate and clinical settings. Despite low objective knowledge, many participants overestimated their competence. These knowledge gaps were associated with challenges in diagnosis and management, including delayed recognition of rare diseases. A strong demand for improved rare disease education and accessible guidelines was consistently expressed. Conclusion Despite growing recognition of rare diseases as a public health priority, healthcare systems worldwide lack structured education, standardised guidelines, and accessible resources. The review calls for further research, urgent educational reform, improved digital resources, and targeted policy changes to integrate rare disease education into healthcare curricula and enhance clinical support. Addressing these gaps will improve care, facilitate earlier diagnoses, and ensure more equitable outcomes for rare disease patients.