The Rare dISease Evaluation (RISE) study: a survey-based investigation of medical student experience and knowledge of rare disease in the UK

Abstract Background Rare diseases are a significant public health concern, with over 6,000 diseases identified with an estimated collective point prevalence of 5.6–6.9%. People living with rare disease face numerous challenges within healthcare including prolonged time to diagnosis and difficulties accessing specialist care, in part due to a substantial knowledge gap among healthcare professionals. This study aimed to investigate UK medical students’ self-assessed knowledge and awareness and objective knowledge of rare disease, as well as their experiences of undergraduate rare disease education. Methods A cross-sectional online survey comprising 28 items was distributed to medical students at 35 General Medical Council-accredited medical schools. Descriptive and inferential statistical analyses were used to examine rare disease knowledge, awareness, educational experiences and their associations. Free-text responses were reviewed to identify recurring themes. Results 253 responses were recorded from undergraduate and graduate-entry medical students. 126 responses from students at 27 medical schools were fully completed, permitting analysis. Respondents represented all years of medical study, although 79% were in years 1–4 or undertaking intercalation. Median self-assessed rare disease knowledge was 3/10 and the median objective knowledge score was 9/15. There was no consistent improvement in self-assessed knowledge, self-assessed awareness, or objective rare disease knowledge with progression through medical school. Greater clinical exposure to people living with rare disease and a personal connection to the rare disease community were associated with higher self-assessed knowledge and awareness but not higher objective knowledge scores. Over half of respondents had received some rare disease education; just one in five felt prepared to recognise or consider a rare disease in practice. Most students (73.8%) expressed interest in further education, with lectures identified as the preferred mode of delivery. Qualitative findings highlighted curriculum overload and the impracticality of learning detailed information about individual rare diseases. Conclusion Important gaps in rare disease knowledge and preparedness for practice exist amongst UK medical students despite strong interest in further rare disease education. Clinical exposure alone may be insufficient to develop transferable rare disease knowledge, highlighting the potential value of educational approaches that combine experiential learning with structured educational support.