Rare diseases – a challenge for the medical world

Authors

DOI:

https://doi.org/10.20883/medical.e503

Keywords:

rare diseases, healthcare professionals, healthcare system

Abstract

The diagnosis and treatment of rare diseases have improved significantly in recent years. The length of the diagnosis, which from the point of view of patients and their caregivers was considered the "Achilles' heel" of the healthcare system, has significantly shortened in many cases. Nevertheless, as research shows, there is still much to be done regarding the knowledge of rare diseases among healthcare professionals. The processes of diagnosis and treatment, as well as their organisation, should be redefined.

Downloads

Download data is not yet available.

References

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific. https://eiuperspectives.economist.com/sites/default/files/eiu_suffering_in_silence_rare_diseases_apac_report_0.pdf. Accessed 2021 February 1.

Rare diseases. https://ec.europa.eu/info/research-and-innovation/research-area/health-research-and-innovation/rare-diseases_en. Accessed 2021 February 27.

Gainotti S, Mascalzoni D, Bros-Facer V, Petrini C, Floridia G, Roos M, Salvatore M, Taruscio D. Meeting Patients’ Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues. International Journal of Environmental Research and Public Health. 2018 Sep 21;15(10):2072. https://doi.org/10.3390/ijerph15102072

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 Journal of Rare Diseases. 2019 May 4;14(1). https://doi.org/10.1186/s13023-019-1075-8

Grut L, Kvam MH. Facing ignorance: people with rare disorders and their experiences with public health and welfare services. Scandinavian Journal of Disability Research. 2013 Mar;15(1):20-32. https://doi.org/10.1080/15017419.2011.645870

Black N, Martineau F, Manacorda T. Diagnostic odyssey for rare diseases: exploration of potential indicators . https://piru.ac.uk/assets/files/Rare%20diseases%20Final%20report.pdf

McKay L. From amyloidosis to Zellwegersyndrome: how can the medicaleducation system include thousandsof rare diseases?. https://nzmsj.scholasticahq.com/article/12509-from-amyloidosis-to-zellweger-syndrome-how-can-the-medical-education-system-include-thousands-of-rare-diseases. Accessed 2021 January 1.

Kühne A, Kleinheinz J, Jackowski J, Köppe J, Hanisch M. Study to Investigate the Knowledge of Rare Diseases among Dentists, Orthodontists, Periodontists, Oral Surgeons and Craniomaxillofacial Surgeons. International Journal of Environmental Research and Public Health. 2020 Dec 28;18(1):139. https://doi.org/10.3390/ijerph18010139

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 Journal of Rare Diseases. 2020 Jan 17;15(1). https://doi.org/10.1186/s13023-019-1285-0

Ramalle-Gómara E, Ruiz E, Quiñones C, Andrés S, Iruzubieta J, Gil-de-Gómez J. General knowledge and opinion of future health care and non-health care professionals on rare diseases. Journal of Evaluation in Clinical Practice. 2014 Nov 3;21(2):198-201. https://doi.org/10.1111/jep.12281

Domaradzki J, Walkowiak D. Medical students' knowledge and opinions about rare diseases: A case study from Poland. Intractable Rare Dis Res. 2019 Nov;8(4):252-9. https://doi.org/10.5582/irdr.2019.01099 PMID 31890452

Walkowiak D, Domaradzki J. Needs assessment study of rare diseases education for nurses and nursing students in Poland. Orphanet Journal of Rare Diseases. 2020 Jun 29;15(1). https://doi.org/10.1186/s13023-020-01432-6

Jonas K, Waligóra M, Hołda M, Sulicka-Grodzicka J, Podolec P, Kopeć G. Knowledge of rare diseases among health care students – the effect of targeted education. Przegl Epidemiol. 2017;71(1):80-9. PMID 28742309

Evans WR, Rafi I. Rare diseases in general practice: recognising the zebras among the horses. British Journal of General Practice. 2016 Oct 27;66(652):550-551. https://doi.org/10.3399/bjgp16x687625

Van Groenendael S, Giacovazzi L, Davison F, Holtkemper O, Huang Z, Wang Q, Parkinson K, Barrett T, Geberhiwot T. High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease. Orphanet Journal of Rare Diseases. 2015 Nov 24;10(1). https://doi.org/10.1186/s13023-015-0366-y

von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, Rosenberger G, Detter C, Bernhardt AM, Larena-Avellaneda A, Kölbel T, Debus ES, Schroeder M, Linke SJ, Fuisting B, Napp B, Kammal A, Püschel K, Bannas P, Hoffmann B, Gessler N, Vahle-Hinz E, Kahl-Nieke B, Thomalla G, Weiler-Normann C, Ohm G, Neumann S, Benninghoven D, Blankenberg S, Pyeritz RE. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. Journal of Multidisciplinary Healthcare. 2016 Nov;Volume 9:587-614. https://doi.org/10.2147/jmdh.s93680

Rubinstein YR, Robinson PN, Gahl WA, Avillach P, Baynam G, Cederroth H, Goodwin RM, Groft SC, Hansson MG, Harris NL, Huser V, Mascalzoni D, McMurry JA, Might M, Nellaker C, Mons B, Paltoo DN, Pevsner J, Posada M, Rockett-Frase AP, Roos M, Rubinstein TB, Taruscio D, van Enckevort E, Haendel MA. The case for open science: rare diseases. JAMIA Open. 2020 Sep 11;3(3):472-486. https://doi.org/10.1093/jamiaopen/ooaa030

Schaaf J, Sedlmayr M, Schaefer J, Storf H. Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. Orphanet Journal of Rare Diseases. 2020 Sep 24;15(1). https://doi.org/10.1186/s13023-020-01536-z

Schaaf J, Prokosch H, Boeker M, Schaefer J, Vasseur J, Storf H, Sedlmayr M. Interviews with experts in rare diseases for the development of clinical decision support system software - a qualitative study. BMC Medical Informatics and Decision Making. 2020 Sep 16;20(1). https://doi.org/10.1186/s12911-020-01254-3

Cohen AM, Chamberlin S, Deloughery T, Nguyen M, Bedrick S, Meninger S, Ko JJ, Amin JJ, Wei AJ, Hersh W. Detecting rare diseases in electronic health records using machine learning and knowledge engineering: Case study of acute hepatic porphyria. Ramagopalan SV. PLOS ONE. 2020 Jul 2;15(7):e0235574. https://doi.org/10.1371/journal.pone.0235574

Elliott E, Zurynski Y. Rare diseases are a 'common' problem for clinicians. Aust Fam Physician. 2015 Sep;44(9):630-3. PMID 26488039

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. International Journal of Environmental Research and Public Health. 2018 Jun 5;15(6):1180. https://doi.org/10.3390/ijerph15061180

Cismondi IA, Kohan R, Adams H, Bond M, Brown R, Cooper JD, de Hidalgo PK, Holthaus SK, Mole SE, Mugnaini J, de Ramirez AMO, Pesaola F, Rautenberg G, Platt FM, de Halac IN. Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2015 Oct;1852(10):2316-2323. https://doi.org/10.1016/j.bbadis.2015.06.018

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 Opinion on Orphan Drugs. 2014 Oct;2(11):1171-1174. https://doi.org/10.1517/21678707.2014.966687

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O, Belmont J, Dunwoodie SL, Jojic N, Lassmann T, Mackay D, Temple IK, Visel A, Baynam G. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 Mar;177(1):32-37. https://doi.org/10.1016/j.cell.2019.02.040

Frésard L, Montgomery SB. Diagnosing rare diseases after the exome. Molecular Case Studies. 2018 Dec;4(6):a003392. https://doi.org/10.1101/mcs.a003392

Downloads

Published

2021-03-02

How to Cite

1.
Bokayeva K, Miraleyeva A, Walkowiak D. Rare diseases – a challenge for the medical world. JMS [Internet]. 2021 Mar. 2 [cited 2023 Dec. 11];90(1):e503. Available from: https://jms.ump.edu.pl/index.php/JMS/article/view/503

Issue

Section

Thousand words about...
Received 2021-02-15
Accepted 2021-03-01
Published 2021-03-02