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Published in: Orphanet Journal of Rare Diseases 1/2021

Open Access 01-12-2021 | Research

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

Authors: Dariusz Walkowiak, Jan Domaradzki

Published in: Orphanet Journal of Rare Diseases | Issue 1/2021

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Abstract

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.
Literature
2.
go back to reference Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions. A systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18:906–14.PubMedCrossRef Richter T, Nestler-Parr S, Babela R, Khan ZM, Tesoro T, Molsen E, et al. Rare disease terminology and definitions. A systematic global review: report of the ISPOR Rare Disease Special Interest Group. Value Health. 2015;18:906–14.PubMedCrossRef
3.
go back to reference Libura M, Władusiuk M, Małowicka M, Grabowska E, Gałązka-Sobotka M, Gryglewicz J, et al. Choroby rzadkie w Polsce: stan obecny i perspektywy. Warszawa: Uczelnia Łazarskiego; 2016. Libura M, Władusiuk M, Małowicka M, Grabowska E, Gałązka-Sobotka M, Gryglewicz J, et al. Choroby rzadkie w Polsce: stan obecny i perspektywy. Warszawa: Uczelnia Łazarskiego; 2016.
4.
go back to reference Schieppati A, Henter J-I, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371:2039–41.PubMedCrossRef Schieppati A, Henter J-I, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. 2008;371:2039–41.PubMedCrossRef
5.
go back to reference Moliner AM, Waligora J. The European Union Policy in the field of rare diseases. Adv Exp Med Biol. 2017;1031:561–87.PubMedCrossRef Moliner AM, Waligora J. The European Union Policy in the field of rare diseases. Adv Exp Med Biol. 2017;1031:561–87.PubMedCrossRef
8.
go back to reference Bokayeva K, Miraleyeva A, Walkowiak D. Rare diseases—a challenge for the medical world. JMS. 2021;90:e503–e503.CrossRef Bokayeva K, Miraleyeva A, Walkowiak D. Rare diseases—a challenge for the medical world. JMS. 2021;90:e503–e503.CrossRef
11.
go back to reference Wise J. Rare diseases are overlooked by doctors, policy makers, and guidelines, says think tank. BMJ. 2012;345:e6604.PubMedCrossRef Wise J. Rare diseases are overlooked by doctors, policy makers, and guidelines, says think tank. BMJ. 2012;345:e6604.PubMedCrossRef
12.
go back to reference Saviano M, Barile S, Caputo F, Lettieri M, Zanda S. From rare to neglected diseases: a sustainable and inclusive healthcare perspective for reframing the orphan drugs issue. Sustainability. 2019;11:1289.CrossRef Saviano M, Barile S, Caputo F, Lettieri M, Zanda S. From rare to neglected diseases: a sustainable and inclusive healthcare perspective for reframing the orphan drugs issue. Sustainability. 2019;11:1289.CrossRef
13.
go back to reference Khosla N, Valdez R. A compilation of national plans, policies and government actions for rare diseases in 23 countries. Intractable Rare Dis Res. 2018;7:213–22.PubMedPubMedCentralCrossRef Khosla N, Valdez R. A compilation of national plans, policies and government actions for rare diseases in 23 countries. Intractable Rare Dis Res. 2018;7:213–22.PubMedPubMedCentralCrossRef
14.
go back to reference Montserrat A, Taruscio D. Policies and actions to tackle rare diseases at European level. Ann Ist Super Sanita. 2019;55:296–304.PubMed Montserrat A, Taruscio D. Policies and actions to tackle rare diseases at European level. Ann Ist Super Sanita. 2019;55:296–304.PubMed
15.
go back to reference Kopeć G, Podolec P. Establishing a curriculum on rare diseases for medical students. J Rare Cardiovasc Dis. 2015;2:74–6. Kopeć G, Podolec P. Establishing a curriculum on rare diseases for medical students. J Rare Cardiovasc Dis. 2015;2:74–6.
16.
go back to reference Jonas K, Waligóra M, Hołda M, Sulicka-Grodzicka J, Strach M, Podolec P, et al. Knowledge of rare diseases among health care students—the effect of targeted education. Przegl Epidemiol. 2017;71:80–9.PubMed Jonas K, Waligóra M, Hołda M, Sulicka-Grodzicka J, Strach M, Podolec P, et al. Knowledge of rare diseases among health care students—the effect of targeted education. Przegl Epidemiol. 2017;71:80–9.PubMed
17.
18.
go back to reference Walkowiak D, Domaradzki J. Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet J Rare Dis. 2020;15:167.PubMedPubMedCentralCrossRef Walkowiak D, Domaradzki J. Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet J Rare Dis. 2020;15:167.PubMedPubMedCentralCrossRef
19.
go back to reference Domaradzki J, Walkowiak D. Medical students’ knowledge and opinions about rare diseases: a case study from Poland. Intractable Rare Dis Res. 2019;8:252–9.PubMedPubMedCentralCrossRef Domaradzki J, Walkowiak D. Medical students’ knowledge and opinions about rare diseases: a case study from Poland. Intractable Rare Dis Res. 2019;8:252–9.PubMedPubMedCentralCrossRef
21.
go back to reference Smith CS, Paauw DS. When you hear hoof beats: four principles for separating zebras from horses. J Am Board Fam Pract. 2000;13:424–9.PubMedCrossRef Smith CS, Paauw DS. When you hear hoof beats: four principles for separating zebras from horses. J Am Board Fam Pract. 2000;13:424–9.PubMedCrossRef
22.
go back to reference Elliott E, Zurynski Y. Rare diseases are a “common” problem for clinicians. Aust Fam Phys. 2015;44:630–3. Elliott E, Zurynski Y. Rare diseases are a “common” problem for clinicians. Aust Fam Phys. 2015;44:630–3.
24.
go back to reference Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, Marzo-Sola ME, Ramón-Trapero JL, Gil-de-Gómez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15:18.PubMedPubMedCentralCrossRef Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, Marzo-Sola ME, Ramón-Trapero JL, Gil-de-Gómez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020;15:18.PubMedPubMedCentralCrossRef
26.
go back to reference Boffin N, Swinnen E, Wens J, Urbina M, Van der Heyden J, Van Casteren V. General practice care for patients with rare diseases in Belgium. A cross-sectional survey. Int J Environ Res Public Health. 2018;15:1180.PubMedCentralCrossRef Boffin N, Swinnen E, Wens J, Urbina M, Van der Heyden J, Van Casteren V. General practice care for patients with rare diseases in Belgium. A cross-sectional survey. Int J Environ Res Public Health. 2018;15:1180.PubMedCentralCrossRef
27.
go back to reference Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O’Sullivan G, et al. The role of primary care in management of rare diseases in Ireland. Ir J Med Sci. 2020;189:771–6.PubMedPubMedCentralCrossRef Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O’Sullivan G, et al. The role of primary care in management of rare diseases in Ireland. Ir J Med Sci. 2020;189:771–6.PubMedPubMedCentralCrossRef
28.
go back to reference Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: exploration of potential indicators. London: Policy Innovation Research Unit, LSHTM; 2015. Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: exploration of potential indicators. London: Policy Innovation Research Unit, LSHTM; 2015.
29.
go back to reference Verger S, Negre F, Fernández-Hawrylak M, Paz-Lourido B. The impact of the coordination between healthcare and educational personnel on the health and inclusion of children and adolescents with rare diseases. Int J Environ Res Public Health. 2021;18:6538.PubMedPubMedCentralCrossRef Verger S, Negre F, Fernández-Hawrylak M, Paz-Lourido B. The impact of the coordination between healthcare and educational personnel on the health and inclusion of children and adolescents with rare diseases. Int J Environ Res Public Health. 2021;18:6538.PubMedPubMedCentralCrossRef
30.
go back to reference Paz-Lourido B, Negre F, de la Iglesia B, Verger S. Influence of schooling on the health-related quality of life of children with rare diseases. Health Qual Life Outcomes. 2020;18:109.PubMedPubMedCentralCrossRef Paz-Lourido B, Negre F, de la Iglesia B, Verger S. Influence of schooling on the health-related quality of life of children with rare diseases. Health Qual Life Outcomes. 2020;18:109.PubMedPubMedCentralCrossRef
31.
go back to reference Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8:22.PubMedPubMedCentralCrossRef Anderson M, Elliott EJ, Zurynski YA. Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet J Rare Dis. 2013;8:22.PubMedPubMedCentralCrossRef
32.
go back to reference Domaradzki J. Family caregivers’ experiences with healthcare services—a case of Huntington disease. Psychiatr Pol. 2016;50:375–91.PubMedCrossRef Domaradzki J. Family caregivers’ experiences with healthcare services—a case of Huntington disease. Psychiatr Pol. 2016;50:375–91.PubMedCrossRef
33.
go back to reference Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy. 2012;105:154–64.PubMedCrossRef Budych K, Helms TM, Schultz C. How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy. 2012;105:154–64.PubMedCrossRef
34.
go back to reference Engel PA, Bagal S, Broback M, Boice N. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. J Rare Disord. 2013;1:1–15. Engel PA, Bagal S, Broback M, Boice N. Physician and patient perceptions regarding physician training in rare diseases: the need for stronger educational initiatives for physicians. J Rare Disord. 2013;1:1–15.
35.
go back to reference Chisolm S, Salkeld E, Houk A, Huber J. Partnering in medical education: rare disease organizations bring experts and a patient voice to the conversation. Expert Opin Orphan Drugs. 2014;2:1171–4.CrossRef Chisolm S, Salkeld E, Houk A, Huber J. Partnering in medical education: rare disease organizations bring experts and a patient voice to the conversation. Expert Opin Orphan Drugs. 2014;2:1171–4.CrossRef
36.
go back to reference Stryjski R, Stryjski A. Systemy kształcenie lekarzy w wybranych krajach europejskich (studia jedno- czy dwustopniowe?). Problemy Profesjologii. 2016;2:83–96. Stryjski R, Stryjski A. Systemy kształcenie lekarzy w wybranych krajach europejskich (studia jedno- czy dwustopniowe?). Problemy Profesjologii. 2016;2:83–96.
38.
go back to reference Mackinnon A. A spreadsheet for the calculation of comprehensive statistics for the assessment of diagnostic tests and inter-rater agreement. Comput Biol Med. 2000;30:127–34.PubMedCrossRef Mackinnon A. A spreadsheet for the calculation of comprehensive statistics for the assessment of diagnostic tests and inter-rater agreement. Comput Biol Med. 2000;30:127–34.PubMedCrossRef
41.
go back to reference Kuiper G-A, Meijer OLM, Langereis EJ, Wijburg FA. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. Orphanet J Rare Dis. 2018;13:2.PubMedPubMedCentralCrossRef Kuiper G-A, Meijer OLM, Langereis EJ, Wijburg FA. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. Orphanet J Rare Dis. 2018;13:2.PubMedPubMedCentralCrossRef
42.
go back to reference Magerl M, Gothe H, Krupka S, Lachmann A, Ohlmeier C. A Germany-wide survey study on the patient journey of patients with hereditary angioedema. Orphanet J Rare Dis. 2020;15:221.PubMedPubMedCentralCrossRef Magerl M, Gothe H, Krupka S, Lachmann A, Ohlmeier C. A Germany-wide survey study on the patient journey of patients with hereditary angioedema. Orphanet J Rare Dis. 2020;15:221.PubMedPubMedCentralCrossRef
43.
go back to reference Sreih AG, Cronin K, Shaw DG, Young K, Burroughs C, Kullman J, et al. Diagnostic delays in vasculitis and factors associated with time to diagnosis. Orphanet J Rare Dis. 2021;16:184.PubMedPubMedCentralCrossRef Sreih AG, Cronin K, Shaw DG, Young K, Burroughs C, Kullman J, et al. Diagnostic delays in vasculitis and factors associated with time to diagnosis. Orphanet J Rare Dis. 2021;16:184.PubMedPubMedCentralCrossRef
44.
go back to reference Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, et al. Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochim Biophys Acta. 2015;1852:2316–23.PubMedCrossRef Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, et al. Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochim Biophys Acta. 2015;1852:2316–23.PubMedCrossRef
45.
go back to reference Vandeborne L, van Overbeeke E, Dooms M, De Beleyr B, Huys I. Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14:99.PubMedPubMedCentralCrossRef Vandeborne L, van Overbeeke E, Dooms M, De Beleyr B, Huys I. Information needs of physicians regarding the diagnosis of rare diseases: a questionnaire-based study in Belgium. Orphanet J Rare Dis. 2019;14:99.PubMedPubMedCentralCrossRef
46.
go back to reference Avellaneda Fernández A, Pérez Martín A, Pombo Allés G, Gutiérrez Delgado E, Izquierdo Martínez M. nombre del Grupo de Trabajo de Enfermedades Raras de Semergen [Perception of rare diseases by the primary care physicians]. SEMERGEN. 2012;38:421–31.PubMedCrossRef Avellaneda Fernández A, Pérez Martín A, Pombo Allés G, Gutiérrez Delgado E, Izquierdo Martínez M. nombre del Grupo de Trabajo de Enfermedades Raras de Semergen [Perception of rare diseases by the primary care physicians]. SEMERGEN. 2012;38:421–31.PubMedCrossRef
47.
go back to reference Li X, Zhang X, Zhang S, Lu Z, Zhang J, Zhou J, et al. Rare disease awareness and perspectives of physicians in China: a questionnaire-based study. Orphanet J Rare Dis. 2021;16:171.PubMedPubMedCentralCrossRef Li X, Zhang X, Zhang S, Lu Z, Zhang J, Zhou J, et al. Rare disease awareness and perspectives of physicians in China: a questionnaire-based study. Orphanet J Rare Dis. 2021;16:171.PubMedPubMedCentralCrossRef
48.
go back to reference Groft SC, Gopal-Srivastava R, Dellon ES, Gupta SK. How to advance research, education, and training in the study of rare diseases. Gastroenterology. 2019;157:917–21.PubMedCrossRef Groft SC, Gopal-Srivastava R, Dellon ES, Gupta SK. How to advance research, education, and training in the study of rare diseases. Gastroenterology. 2019;157:917–21.PubMedCrossRef
49.
go back to reference Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, et al. Educational and knowledge gaps within the European reference network on rare endocrine conditions. Endocr Connect. 2021;10:37–44.PubMedCrossRef Iotova V, Schalin-Jäntti C, Bruegmann P, Broesamle M, Bratina N, Tillmann V, et al. Educational and knowledge gaps within the European reference network on rare endocrine conditions. Endocr Connect. 2021;10:37–44.PubMedCrossRef
51.
go back to reference Kretschmer T, Danker A, Müller O, Rösen-Wolff A, Lee-Kirsch MA, Berner R. Wie häufig ist selten wirklich? Eine Erhebung zur Häufigkeit Seltener Erkrankungen an einem Universitätsklinikum [How Often is Rare Really Rare? A Survey on the Frequency of Rare Diseases at a University Hospital]. Gesundheitswesen. 2021. https://doi.org/10.1055/a-1388-7095.CrossRefPubMed Kretschmer T, Danker A, Müller O, Rösen-Wolff A, Lee-Kirsch MA, Berner R. Wie häufig ist selten wirklich? Eine Erhebung zur Häufigkeit Seltener Erkrankungen an einem Universitätsklinikum [How Often is Rare Really Rare? A Survey on the Frequency of Rare Diseases at a University Hospital]. Gesundheitswesen. 2021. https://​doi.​org/​10.​1055/​a-1388-7095.CrossRefPubMed
52.
go back to reference Tversky A, Kahneman D. Judgment under uncertainty: heuristics and biases. Science. 1974;185:1124–31.PubMedCrossRef Tversky A, Kahneman D. Judgment under uncertainty: heuristics and biases. Science. 1974;185:1124–31.PubMedCrossRef
53.
go back to reference Kahneman D. Thinking, fast and slow. New York: Farrar, Straus and Giroux; 2011. p. 499. Kahneman D. Thinking, fast and slow. New York: Farrar, Straus and Giroux; 2011. p. 499.
54.
go back to reference Sarrafpour B, Hegde S, Delamare E, et al. Career-computer simulation increases perceived importance of learning about rare diseases. BMC Med Educ. 2021;21(1):279.PubMedPubMedCentralCrossRef Sarrafpour B, Hegde S, Delamare E, et al. Career-computer simulation increases perceived importance of learning about rare diseases. BMC Med Educ. 2021;21(1):279.PubMedPubMedCentralCrossRef
55.
go back to reference Maiella S, Rath A, Angin C, Mousson F, Kremp O. Orphanet and its consortium: where to find expert-validated information on rare diseases. Rev Neurol (Paris). 2013;169(Suppl 1):S3–8.CrossRef Maiella S, Rath A, Angin C, Mousson F, Kremp O. Orphanet and its consortium: where to find expert-validated information on rare diseases. Rev Neurol (Paris). 2013;169(Suppl 1):S3–8.CrossRef
56.
go back to reference Ruano-Ravina A, Pérez-Ríos M. Regarding a case report: Rare diseases and bibliometric impact factor. J Clin Epidemiol. 2012;65:916–7.PubMedCrossRef Ruano-Ravina A, Pérez-Ríos M. Regarding a case report: Rare diseases and bibliometric impact factor. J Clin Epidemiol. 2012;65:916–7.PubMedCrossRef
57.
go back to reference Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E. “Is it going to hurt?”: the impact of the diagnostic odyssey on children and their families. J Genet Couns. 2015;24:325–35.PubMedCrossRef Carmichael N, Tsipis J, Windmueller G, Mandel L, Estrella E. “Is it going to hurt?”: the impact of the diagnostic odyssey on children and their families. J Genet Couns. 2015;24:325–35.PubMedCrossRef
58.
go back to reference Czech M, Baran-Kooiker A, Atikeler K, Demirtshyan M, Gaitova K, Holownia-Voloskova M, et al. A review of rare disease policies and orphan drug reimbursement systems in 12 Eurasian countries. Front Public Health. 2019;7:416.PubMedCrossRef Czech M, Baran-Kooiker A, Atikeler K, Demirtshyan M, Gaitova K, Holownia-Voloskova M, et al. A review of rare disease policies and orphan drug reimbursement systems in 12 Eurasian countries. Front Public Health. 2019;7:416.PubMedCrossRef
62.
go back to reference Zgliczyński WS, Cianciara D, Śliż D, Rostkowska O, Pinkas J. Lekarze i lekarze dentyści w Polsce—stan kadrowy i system kształcenia. Postępy Nauk Medycznych. 2016;6:270–8.CrossRef Zgliczyński WS, Cianciara D, Śliż D, Rostkowska O, Pinkas J. Lekarze i lekarze dentyści w Polsce—stan kadrowy i system kształcenia. Postępy Nauk Medycznych. 2016;6:270–8.CrossRef
Metadata
Title
Are rare diseases overlooked by medical education? Awareness of rare diseases among physicians in Poland: an explanatory study
Authors
Dariusz Walkowiak
Jan Domaradzki
Publication date
01-12-2021
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2021
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-021-02023-9

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