Abstract

Consequently, there is a need to increase the standards of medical education in the field of Rare Diseases and to revise the undergraduate and postgraduate training programs. However, while studies on medical education in the field of RDs has been conducted in various countries across the both Americas, Asia or the European Union, still little is known about the awareness of RDs among healthcare professionals in the kingdom of Saudi Arabia. Thus, we conducted a survey among 200 medical students and 200 nursing students from the college of applied medical sciences at aseer region. The questionnaire assessed their knowledge about the number, examples, aetiology and estimated frequency of RDs. It also evaluated respondents’ self-assessment of competence in RDs. Although the majority of respondents agreed that RDs constitute a serious public health issue both medical students and nursing students showed insufficient knowledge on the aetiology, epidemiology and prevalence of RDs, and many had problems with separating RDs from more common disorders. Moreover, they also lacked knowledge about and the central register of RD patients and reimbursement of orphan drugs in Saudi Arabia. Finally, while almost half respondents declared having had classes about RDs during their studies most perceived their knowledge about RDs as insufficient or poor and felt unprepared for caring for RD patients. Additionally, although majority of respondents in both groups believed that all physicians, regardless of their specialization, should possess knowledge on RDs many respondents did not look for such information at all. While genetics constitutes an important part of medical education, one can observe a lack of knowledge about rare diseases (RD) among medical students and healthcare professionals. Meanwhile, many RD are life threatening and chronically debilitating conditions that significantly reduce patients' quality of life. Most RD patients experience various psychiatric symptoms, behavioural changes and mental retardation. Consequently, physicians should be educated on RD. Thus, the aim of this paper is to assess the knowledge about RD among future medical professionals.

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