Level of Knowledge on Rare Diseases: A Cross-Sectional Study Among Future Healthcare Professionals

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Abstract
Aim: This study aimed to assess knowledge levels regarding rare diseases among health sciences students in Turkey as it is thought that these knowledge levels may be limited, and this situation may be associated with various risks in terms of early diagnosis, patient safety, and healthcare service efficiency. Rare diseases, despite their low individual prevalence, collectively represent an important public health concern due to their diagnostic complexity and limited treatment options. In this context, the present study also sought to identify specific gaps in students’ knowledge, explore the relationship between subjective awareness and objectively measured knowledge, and highlight key educational needs to inform the development of health professions curricula. Understanding these dimensions is important, as insufficient knowledge may delay early diagnosis, negatively affect patient safety, and reduce healthcare service efficiency. Methods: A total of 206 students (156 females, 50 males; aged ≥18 years) participated in this cross-sectional study. Data were collected through face-to-face and online questionnaires to enhance accessibility. Participants were recruited via convenience sampling from faculties of health sciences. Knowledge and awareness levels were assessed using the Rare Diseases Knowledge and Awareness Scale. Results: The mean knowledge score was 4.56 ± 3.13 (range: 0–22), indicating low levels of knowledge. Students familiar with the term “rare diseases” had significantly higher scores (U = 4457, z = –3.17, p = .002). Knowledge levels differed significantly according to self-assessed awareness (χ²(4) = 11.28, p = .024), with those reporting “very poor” awareness scoring lower than others.Conclusion: Health sciences students in Turkey demonstrate limited knowledge of rare diseases. Prior exposure is associated with higher levels of awareness and knowledge. These findings highlight the need to integrate structured and interdisciplinary education on rare diseases into health professions education to support early diagnosis and improve patient care. From a medical education perspective, embedding rare diseases within competency-based curricula through case-based learning, early clinical exposure, and structured assessment strategies may offer a sustainable approach to bridging this gap and better preparing future professionals for real-world clinical complexity.

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