The Awareness of Rare Diseases Among Medical Students and Practicing Physicians in the Republic of Kazakhstan. An Exploratory Study

Abstract

Although national plans or strategies for rare diseases (RDs) have been implemented in many jurisdictions research show that one of the main barriers RD patients face during medical encounter is medical professionals' low level of knowledge and experience on the diagnosis, treatment and rehabilitation of RD patients. Consequently, there is a need to increase the standards of medical education in the field of RDs 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 Republic of Kazakhstan. Thus, we conducted a survey among 207 medical students and 101 medical doctors from the West Kazakhstan Marat Ospanov Medical University, Aktobe, Kazakhstan. The study was conducted between March and May 2021. The questionnaire assessed their knowledge about the number, examples, etiology 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 medical doctors showed insufficient knowledge on the etiology, 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 Kazakhstan. 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.

Knowledge level of medical students and physicians about rare diseases in Lima, Peru

“…For example, research carried out in La Rioja, Spain concluded that future healthcare and non-healthcare professionals have a low level of general knowledge of this subject and none of them prioritize the allocation of funds to RDs (7). Also, another study conducted in Kazakhstan showed deficient knowledge if the epidemiology of RDs, since only 5% of the physicians had mastered the frequency of prevalence and correctly estimated the number of RDs (19). In this research, 92% of the students and 85.6% of the physicians obtained scores indicative of an insufficient or low level of knowledge, as demonstrated in a study carried out in Spain, where the primary health care professionals lack knowledge about RDs and this lack is consciously perceived by physicians (20).…”

Iranian future healthcare professionals' knowledge and opinions about rare diseases: cross-sectional study

“…The results of a study conducted in Kazakhstan show that medical students and physicians suffer from inadequate education in rare diseases. They suggested an immediate revision of medical education standards [21].…”

Walk a mile in my shoes: perspectives towards sharing of health and experience data among individuals living with sickle cell disorder

“…This may be a result of a lack of awareness among HCPs in knowing what matters to patients with specific rare disorders. Recent studies of primary and secondary care providers in Kazakhstan ( 32 ), the United Kingdom ( 12 ) and Poland ( 33 ) have demonstrated that most physicians lacked basic knowledge about the aetiology, epidemiology and prevalence of rare conditions, with 94.6% of physicians perceiving their knowledge on rare disorders as insufficient or very poor, and less than 5.3% feeling prepared for caring for patients with rare disorders ( 33 ). Co-design between patients and HCPs may help broaden current understanding and better align these stakeholder perspectives and expectations with regard to data collection and sharing.…”