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

Abstract

rare diseases, orphan drugs, medical students, physicians, knowledge Rare diseases (RDs) affect up to 8% of the world's population, and unfortunately, health professionals have a low level of knowledge regarding the impacts of RDs on the social, psychological, and economic spheres of the patients and their families; hence, RD management is inadequate, consistently empirical, and precarious. The objective of this study was to determine the knowledge level of the medical students from a non-state university and physicians from Lima, Peru of RDs through a virtual survey for an analytical cross-sectional study. A total of 338 medical students and 382 physicians were surveyed. Results showed that several of the respondents (68.1% of students and 48.7% of physicians) had heard of the term "rare disease", but only a few stated that they had received any kind of training specific to it. Of the physicians, 46.6% considered that there should be a course about RDs in medical curricula, and more than 60% considered RDs a public health problem. Most respondents prioritized the planning of a higher budget for common diseases and believe it is convenient to allocate a specific fund for RDs. More than half of the participants had a very poor knowledge level. Due to students and physicians' low level of general knowledge of RDs, it is important to raise awareness and improve their education about these pathologies because this will have beneficial effects for RD patient care.

What is the awareness of rare diseases among medical students? A survey in Bulgaria

“…This study con rmed previous ndings from other countries that medical students generally lack knowledge and awareness of RD [19,20,[23][24][25]. While there was some disagreement between the two groups of respondents in our research, they largely found common ground on the most important issues and expressed support for similar measures to improve undergraduate training in RD.…”

“…In all the studies conducted so far, medical students acknowledged the need for more concentrated training in RD by mentioning elective courses in RD and inviting lectures by RD experts as potential options to boost medical undergraduate education on RD. Participation in RD research projects and scienti c events is also welcome by the respondents to those surveys [19,20,[23][24][25][26][33][34][35][36]. In our study, we witnessed comparable gaps in knowledge in both students trained in Bulgarian and in English.…”

“…It could take between 3 and 14 years from the onset of symptoms to a nal diagnosis for certain RD. Social consequences like isolation and discrimination additionally severe the impact of RD on the patients affected and their families [17][18][19][20][21]. All this considered, undergraduate medical education appears to be a major pillar for a sustainable, long-term improvement of care for RD patients and their families.…”

Características clínicas y moleculares de pacientes con distrofia muscular de Duchenne y de Becker en el Hospital Nacional Guillermo Almenara Irigoyen, Perú, 1997-2007

“…Si bien, los padres de familia suelen ser los primeros en notar los síntomas de sus hijos con probable DMD, motivo por el cual acuden a un profesional de la salud. Es importante fortalecer la educación médica en estas enfermedades genéticas (24), desde su sintomatología hasta las posibilidades terapeúticas disponibles, con el fin de que al momento de solicitar los estudios auxiliares (bioquímicos, electromiográficos, moleculares, etc) sean los más concordantes con la clínica del paciente, para que el diagnóstico de la enfermedad sea más temprana; el cual además repercutirá en un asesoramiento genético exacto, permitiendo la búsqueda de pacientes precozmente, así como la detección de portadoras (25). La prueba de creatina fosfoquinasa (CPK) podría enfatizarse en la atención primaria como una prueba de rutina en los exámenes de los niños con sospecha de esta enfermedad (26,27).…”

Frequency of Hereditary and GBA1‐Related Parkinsonism in Latin America: A Systematic Review and Meta‐Analysis

“…This disparity in research can also indicate that many Latin American patients do not receive adequate diagnosis, counseling, and treatment, which also limits our capacity to better understand disease mechanisms and modifiers. Likely underlying reasons include limited funding for genetic testing and research, [118][119][120] lack of knowledge of health professionals, [121][122][123] and the perception of a lower clinical utility of genetic testing by clinicians. 124 Understanding the frequency and distribution of monogenic parkinsonism is crucial for the development of clinical trials and targeted medicine.…”