General knowledge and opinion of future health care and non‐health care professionals on rare diseases

Ramalle-Gómara, Enrique; Ruiz, Elena; Quiñones, Carmen; Cabello, Sergio Andrés; Iruzubieta, Javier; Gil-de-Gómez, Josefa

doi:10.1111/jep.12281

Cited by 34 publications

(41 citation statements)

References 5 publications

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“…No information about these needs is available for healthcare professionals in Spain. In a previous study, we found differences in rare diseases knowledge from resident doctors to health and non-health future professionals [14]. Avellaneda et al [15] described that only 20% of physicians had carried out specific training and only 15% have a good knowledge about rare diseases.…”

Section: Introductionmentioning

confidence: 79%

Education and information needs for physicians about rare diseases in Spain

Ramalle-Gómara

Domínguez‐Garrido²,

Gómez-Eguílaz

et al. 2020

Orphanet J Rare Dis

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Background: Rare diseases are a priority objective for public health systems. Given its complexity, late and misdiagnoses occur very often which causes mental and physical burden for patients and family. This would be caused, in part, for unprepared clinicians in this field. The aim of this study was to report the training needs and the perceived shortcomings of Spanish physicians of the public health system in the diagnosis, treatment and monitoring of patients with rare diseases. Methods: We used a descriptive cross-sectional study through an "ad hoc" survey of 26 questions was completed by 132 primary care physicians and 37 specialists during April and May 2018. Results: Less than a third of the physicians had received training in rare disease during their undergraduate or postgraduate years, and for hospital professionals, they received more training in the postgraduate period. Conclusion: Primary care physicians and specialists showed low training level in rare diseases. An academical and continuous program on rare disease, as well as, multidisciplinary units and high quality practice guidelines are necessary to help to prevention and support clinical decisions and improve quality of care of patients and families.

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Section: Introductionmentioning

confidence: 79%

Education and information needs for physicians about rare diseases in Spain

Ramalle-Gómara

Domínguez‐Garrido²,

Gómez-Eguílaz

et al. 2020

Orphanet J Rare Dis

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“…It is important because while RD are life threatening and chronically debilitating diseases that significantly reduce patients' quality of life, their early detection, diagnosis and therapy enable the patient's daily functioning and increase their quality of life. Thus, although during the past few years there have been an increasing number of campaigns and initiatives aiming at addressing RD, including celebration of Rare Disease Day on February 29 th (which was first organized in 2008 in numerous European countries and in Canada), and creation of many websites dedicated to RD and their particular types, still there can be observed a lack of knowledge about RD among the general population (9,10), medical students (11)(12)(13)(14)(15)(16) and healthcare professionals, including physicians and pharmacists (17)(18)(19)(20)(21)(22). Consequently, RD patients and their families report that due to physicians' lack of knowledge and disease-related experience they have to become selfexperts on their own disease and educate physicians about their condition (18,23,24).…”

Section: Discussionmentioning

confidence: 99%

“…While our understanding of genetically based human diseases has increased significantly and genetics constitutes an important part of medical education, still many educational programs lack specific courses dedicated to RD. Consequently, medical students often do not receive necessary training in RD (11)(12)(13)(14)(15)(16).…”

Section: Discussionmentioning

confidence: 99%

“…58.1% did not know their prevalence and 67.4% the number of RD (16). Only 25% of healthcare students from la Rioja, Spain knew the definitions of RD and orphan drugs and the majority did not believe that research or funding for RD should be prioritized (12). While medical students in Serbia recognized many problems related to drug provisions for RD patients they demonstrated a moderate level of knowledge about RD and did not consider them an important social problem (15).…”

Section: Discussionmentioning

confidence: 99%

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Medical students' knowledge and opinions about rare diseases: A case study from Poland

Domaradzki

Walkowiak

2019

IRDR

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“…Students frequently express doubt on the value of learning about rare diseases [1]. Senior and sometimes specialist clinicians often seem to reinforce this doubt, by advising students they 'will never see' a range of rare conditions in general practice; this despite referrals to specialists often being from general practitioners.…”

Section: Introductionmentioning

confidence: 99%

Career-computer simulation increases perceived importance of learning about rare diseases

Sarrafpour

Hegde

Delamare

et al. 2020

Preprint

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Background Rare diseases may be defined as occurring in less than 1 in 2,000 patients. Such conditions are, however, so numerous that up to 5.9% of the population is afflicted by a rare disease. The gambling industry attests that few people have native skill evaluating probabilities. We believe that both students and academics, under-estimate the likelihood of encountering rare diseases. This combines with pressure on curriculum time, to reduce both student interest in studying rare diseases, and academic content preparing students for clinical practice. Underestimation of rare diseases, may also contribute to unhelpful blindness to considering such conditions in the clinic. Methods We first developed a computer simulation, modelling the number of cases of increasingly rare conditions encountered by a cohort of clinicians. The simulation captured results for each year of practice, for each clinician throughout the entirety of their careers. 462 theoretical conditions were considered, with prevalence ranging from 1 per million people through to 64.1% of the population. We then delivered a class with two in-class on-line surveys evaluating student perception of the importance of learning about rare diseases, one before and the other after, an in-class real-time computer simulation. Key simulation variables were drawn from the student group, so students could see a projection of their own careers. Results The in-class computer simulation revealed that all graduating clinicians from that class would frequently encounter rare conditions. Comparison of results of the in-class survey conducted before and after the computer simulation, revealed a significant increase in the perceived importance of learning about rare diseases (p < 0.005). Conclusions The computer career simulation appeared to affect student perception. Because the computer simulation demonstrated clinicians frequently encounter patients with rare diseases, we further suggest this should be considered by academics during curriculum review and design.

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General knowledge and opinion of future health care and non‐health care professionals on rare diseases

Abstract: Although resident doctors have a little more general knowledge on RD than other surveyed groups, health and non-health future professionals have a low general knowledge on this topic and none of them prioritized the assignment of funds to RD.

Cited by 34 publications

References 5 publications

Education and information needs for physicians about rare diseases in Spain

Education and information needs for physicians about rare diseases in Spain

Medical students' knowledge and opinions about rare diseases: A case study from Poland

Career-computer simulation increases perceived importance of learning about rare diseases

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