Abstract
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, behavioral 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 physicians. The study was conducted among 346 medical students of Poznan University of Medical Sciences. It showed that while 99.4% of respondents had heard the term 'rare disease' and 90.5% knew its main cause, only 11.5% correctly estimated the prevalence of RD. Moreover, only 35.3% knew what percentage of RD is of genetic character and 24.9% that RD are most common among children. Additionally, very few students knew the number of RD patients in Poland (5.2%). Most respondents believed that it is primarily geneticists (76.6%) and pediatricians (74.3%) who should be uniquely educated and trained in RD. Interestingly, although 95.4% of respondents perceived their knowledge about RD as insufficient or very poor and 92.2% did not feel prepared for caring for RD patients, 45.7% believed that it is not necessary to add an extra course on RD into medical curricula. Thus, as most future physicians do not possess knowledge about RD, there is an urgent need to raise the awareness on RD among medical students and educate them about such diseases.