Repercussions of the diagnostic delay of rare diseases: A scoping review protocol
DOI:
https://doi.org/10.33448/rsd-v13i12.47669Keywords:
Rare diseases; Delayed diagnosis; Neglected diseases; Undiagnosed diseases.Abstract
Rare diseases (RDs) are life-threatening conditions affecting 263 to 446 million people globally. However, diagnosing these diseases often takes years, leading to a "diagnostic odyssey." The impact of these delays is often underreported, leaving patients' consequences unclear. This protocol intends to guide a scoping review about the current knowledge on RDs, identify gaps and clarify reasons for diagnostic delays, focusing on global trends and Brazil. Following PRISMA-ScR guidelines and using the Joanna Briggs Institute’s framework, searches will be conducted in five databases (PubMed, LILACS, Embase, Cochrane Library, and IBECS) and grey literature from reputable sources. Two authors will independently screen and extract data, resolving discrepancies with a third reviewer. Data will be analyzed qualitatively and presented through figures and narrative synthesis, with statistical analysis applied when pertinent. This protocol will supply a step-by-step guide for a scoping review that is going to provide critical insights into the effects of diagnostic delays in rare diseases, offering valuable information to improve diagnostic process and patient care. This protocol has been registered in the Open Science Framework (https://osf.io/zte3c/?view_only=90c5abadfbb646d6a64bc284314e696c).
References
Anais do Congresso. (2023). In Sociedade Brasileira De Genética Médica E Genômica. https://www.sbgm.org.br/anais-do-congresso.aspx
Anderson, M., Elliott, E. J., & Zurynski, Y. A. (2013). Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support. Orphanet Journal of Rare Diseases, 8(1). https://doi.org/10.1186/1750-1172-8-22
Aromataris, M. (2024). JBI Manual for Evidence Synthesis. JBI Global Wiki. https://jbi-global-wiki.refined.site/space/MANUAL
Bauskis, A., Strange, C., Molster, C., & Fisher, C. (2022). The diagnostic odyssey: insights from parents of children living with an undiagnosed condition. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02358-x
Benito-Lozano, J., Arias-Merino, G., Gómez-Martínez, M., Ancochea-Díaz, A., Aparicio-García, A., De La Paz, M. P., & Alonso-Ferreira, V. (2022). Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay. International Journal of Environmental Research and Public Health, 19(11), 6456. https://doi.org/10.3390/ijerph19116456
Benito-Lozano, J., López-Villalba, B., Arias-Merino, G., De La Paz, M. P., & Alonso-Ferreira, V. (2022). Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02530-3
Benito-Lozano, J., Arias-Merino, G., Gómez-Martínez, M., Arconada-López, B., Ruiz-García, B., De La Paz, M. P., & Alonso-Ferreira, V. (2023). Psychosocial impact at the time of a rare disease diagnosis. PLoS ONE, 18(7), e0288875. https://doi.org/10.1371/journal.pone.0288875
Bertolini, A., Rigoldi, M., Cianflone, A., Mariani, R., Piperno, A., Canonico, F., Cefalo, G., Carubbi, F., Simonati, A., Urban, M. L., Beccari, T., & Parini, R. (2023). Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis. Clinical Dysmorphology. https://doi.org/10.1097/mcd.0000000000000474
Bygum, A., Aygören-Pürsün, E., Beusterien, K., Hautamaki, E., Sisic, Z., Wait, S., Boysen, H., & Caballero, T. (2015). Burden of Illness in Hereditary Angioedema: a Conceptual model. Acta Dermato Venereologica, 95(6), 706–710. https://doi.org/10.2340/00015555-2014
Courbier, S. (2017). Juggling care and daily life: The balancing act of the rare disease community. In Eurordis. https://www.eurordis.org/publications/juggling-care-report/
Doenças raras – quais são e por que são chamadas dessa forma? | Pfizer Brasil. (2019). https://www.pfizer.com.br/noticias/ultimas-noticias/doencas-raras-quais-sao-e-porque-sao-chamadas-assim
Entendendo as doenças raras. (2022). Ministério Dos Direitos Humanos E Da Cidadania. https://www.gov.br/mdh/pt-br/navegue-por-temas/pessoa-com-deficiencia/doencas-raras/entendendo-as-doencas-raras#:~:text=Segu
Félix, T. M., De Oliveira, B. M., Artifon, M., Carvalho, I., Bernardi, F. A., Schwartz, I. V. D., Saute, J. A., Ferraz, V. E. F., Acosta, A. X., Sorte, N. B., Alves, D., Amorim, T., Adjuto, G. M. a. F., Almeida, R. E. S., Brandão, F. R., Bueno, L. S. M., De Andrade, M. D. F. C., Cagliari, C. I., Cardoso, M. T., . . . Zuchetti, M. G. (2022). Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN). Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02254-4
Frankish, N. (2022). Good Diagnosis Improving the experiences of diagnosis for people with rare conditions. In Rare Disease UK. https://geneticalliance.org.uk/wp-content/uploads/2024/01/Rare-Disease-UK-Good-Diagnosis-Report-2022-Final.pdf
Giugliani, R., Vairo, F. P., Riegel, M., De Souza, C. F. M., Schwartz, I. V. D., & Pena, S. D. J. (2016). Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism. Orphanet Journal of Rare Diseases, 11(1). https://doi.org/10.1186/s13023-016-0458-3
Gimenez-Lozano, C., Páramo-Rodríguez, L., Cavero-Carbonell, C., Corpas-Burgos, F., López-Maside, A., Guardiola-Vilarroig, S., & Zurriaga, O. (2022). Rare Diseases: Needs and Impact for patients and families: A Cross-Sectional Study in the Valencian Region, Spain. International Journal of Environmental Research and Public Health, 19(16), 10366. https://doi.org/10.3390/ijerph191610366
Guide to Developing a Patient Journey. (2024). In Eurordis. https://download2.eurordis.org/publications/GuideDevelopmentPatientJourney-2024.pdf
Iriart, J. a. B., Nucci, M. F., Muniz, T. P., Viana, G. B., De Araújo Aureliano, W., & Gibbon, S. (2019). Da busca pelo diagnóstico às incertezas do tratamento: desafios do cuidado para as doenças genéticas raras no Brasil. Ciência & Saúde Coletiva, 24(10), 3637–3650. https://doi.org/10.1590/1413-812320182410.01612019
Impact at a glance. (2023). The Global Genes. https://globalgenes.org
Jorge, A. de Oliveira. (2014). Diretrizes para Atenção Integral às Pessoas com Doenças Raras no Sistema Único de Saúde – SUS. In Ministério Da Saúde. https://bvsms.saude.gov.br/bvs/publicacoes/diretrizes_atencao_integral_pessoa_doencas_raras_SUS.pdf
Linha de cuidados. (2024). Ministério Da Saúde. https://www.gov.br/saude/pt-br/composicao/saes/doencas-raras/linha-de-cuidados
LibGuides: Grey Literature: What is Grey Literature? (2024). https://libguides.exeter.ac.uk/c.php?g=670055&p=4756572%E2%80%8C
Marley, F. (2018). Implementation Plan for the UK Strategy for Rare Diseases. https://www.england.nhs.uk/wp-content/uploads/2018/01/implementation-plan-uk-strategy-for-rare-diseases.pdf
Medicines for rare diseases - orphan drugs | EUR-Lex. (2016). https://eur-lex.europa.eu/legal-content/EN/TXT/?uri=LEGISSUM:l21167
Mehta, A., Belmatoug, N., Bembi, B., Deegan, P., Elstein, D., Göker-Alpan, Ö., . . . & Rocco, M. (2020). Gaucher disease: current therapies and future directions. Orphanet Journal of Rare Diseases, 15(1). https://doi.org/10.1186/s13023-020-01322-5
Molster, C., Urwin, D., Di Pietro, L., Fookes, M., Petrie, D., Van Der Laan, S., & Dawkins, H. (2016). Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet Journal of Rare Diseases, 11(1). https://doi.org/10.1186/s13023-016-0409-z
National Center for Advancing Translational Sciences. (2024). National Institutes of Health. https://ncats.nih.gov/
Nunn, R. (2017). “It’s not all in my head!” - The complex relationship between rare diseases and mental health problems. Orphanet Journal of Rare Diseases, 12(1). https://doi.org/10.1186/s13023-017-0591-7
Ouzzani, M., Hammady, H., Fedorowicz, Z., & Elmagarmid, A. (2016). Rayyan—a web and mobile app for systematic reviews. Systematic Reviews, 5(1). https://doi.org/10.1186/s13643-016-0384-4
Páramo-Rodríguez, L., Cavero-Carbonell, C., Guardiola-Vilarroig, S., López-Maside, A., Sanjuán, M. E. G., & Zurriaga, Ó. (2022). Demora diagnóstica en enfermedades raras: entre el miedo y la resiliencia. Gaceta Sanitaria, 37, 102272. https://doi.org/10.1016/j.gaceta.2022.102272
Plaiasu, V., Nanu, M., & Matei, D. (2010). Rare Disease Day - at a glance. Maedica, 5(1), 65–66.
PRISMA Flow Diagram. (2020). PRISMA. https://www.prisma-statement.org/prisma-2020-flow-diagram
RARAS. (2024). https://raras.org.br
Rare diseases at FDA. (2022). FDA. Retrieved May 14, 2024, from https://www.fda.gov/patients/rare-diseases-fda
RARE disease facts. (2018). Global Genes. https://globalgenes.org/rare-disease-facts/
Tanaka, H., & Shimaoka, M. (2023). Trust in physicians and definitive diagnosis time among Japanese patients with specific intractable diseases: A cross-sectional study. Intractable & Rare Diseases Research, 12(2), 97–103. https://doi.org/10.5582/irdr.2023.01017
Teutsch, S., Zurynski, Y., Eslick, G. D., Deverell, M., Christodoulou, J., Leonard, H., Dalkeith, T., Johnson, S. L. J., & Elliott, E. J. (2023). Australian children living with rare diseases: health service use and barriers to accessing care. World Journal of Pediatrics, 19(7), 701–709. https://doi.org/10.1007/s12519-022-00675-6
Tricco, A. C., Lillie, E., Zarin, W., O’Brien, K. K., Colquhoun, H., Levac, D., Moher, D., Peters, M. D., Horsley, T., Weeks, L., Hempel, S., Akl, E. A., Chang, C., McGowan, J., Stewart, L., Hartling, L., Aldcroft, A., Wilson, M. G., Garritty, C., . . . Straus, S. E. (2018). PRISMA Extension for Scoping Reviews (PRISMA-SCR): Checklist and explanation. Annals of Internal Medicine, 169(7), 467–473. https://doi.org/10.7326/m18-0850
Uhlenbusch, N., Löwe, B., Härter, M., Schramm, C., Weiler-Normann, C., & Depping, M. K. (2019). Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study. PLoS ONE, 14(2), e0211343. https://doi.org/10.1371/journal.pone.0211343
Uhlenbusch, N., Löwe, B., & Depping, M. K. (2019). Perceived burden in dealing with different rare diseases: a qualitative focus group study. BMJ Open, 9(12), e033353. https://doi.org/10.1136/bmjopen-2019-033353
Wakap, S. N., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Cam, Y. L., & Rath, A. (2019). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics, 28(2), 165–173. https://doi.org/10.1038/s41431-019-0508-0
Withers, C. M., Fleming, J., Wallingford, C. K., Gabbett, M. T., Peterson, M., Humphreys, L., & McInerney‐Leo, A. (2020). Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label.” American Journal of Medical Genetics Part A, 185(1), 105–111. https://doi.org/10.1002/ajmg.a.619200
World Health Organization. (2024). ICD-11 for Mortality and Morbidity Statistics. https://icd.who.int/browse/2024-01/mms/en
Yang, G., Cintina, I., Pariser, A., Oehrlein, E., Sullivan, J., & Kennedy, A. (2022). The national economic burden of rare disease in the United States in 2019. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02299-5
Zanello, G., Chan, C., & Pearce, D. A. (2022). Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients. Orphanet Journal of Rare Diseases, 17(1). https://doi.org/10.1186/s13023-022-02337-8
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Copyright (c) 2024 Luisa Rezende Batista; Luiza Fernandes Valente; Fernando Spina; Davi Said Gonçalves Celso; Israel Gomy; Christiane Mariotini-Moura
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