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Background  During their studies, future physicians are often taught that while evaluating a patient they should first consider a common diagnosis and not a rare one. Consequently, although most physicians will face the diagnosis or treatment of a rare disease (RD) at some point in their professional lives, many assume that they might never meet a patient with a specific RD. Moreover, many physicians lack knowledge about RDs and are not prepared for caring for RD patients. Thus, the aim of this paper was to assess the awareness of RDs among Polish physicians.    Methods  The study was conducted among 165 medical doctors taking their specialization courses at the Poznan University of Medical Sciences, Poland. The questionnaire assessed physicians’ knowledge about the number, examples, etiology and estimated frequency of RDs. It also checked the self-assessment of physicians competence in RDs, as well as their opinions about university curricula in this respect.    Results  The study shows that while most physicians lacked basic knowledge about the etiology, epidemiology and prevalence of RDs, many had also problems with separating RDs from more common disorders. Moreover, 94.6% of physicians perceived their knowledge on RDs as insufficient or very poor and less than 5% feel prepared for caring for patients with RDs. Simultaneously, while over 83% of physicians believed that RDs constitute a serious public health issue, 17% were of the opinion that mandatory courses on RDs are not necessary in medical curricula and 6.7% were not interested in broadening their knowledge of such diseases. Most respondents derived their knowledge on RDs from university courses, scientific literature and research, as well as from the Internet.    Conclusion  Since the study shows that there is a urgent need to fill the gap in physicians’ knowledge on RDs, it seems advisable that extra courses on these diseases should be added to medical curricula and physicians’ postgraduate training. Furthermore, as the Internet is the main source of information on RDs, e-learning programs and courses for all medical professionals should be organized.

Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study