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Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay

Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one yea...

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Autores principales: Benito-Lozano, Juan, Arias-Merino, Greta, Gómez-Martínez, Mario, Ancochea-Díaz, Alba, Aparicio-García, Aitor, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180264/
https://www.ncbi.nlm.nih.gov/pubmed/35682039
http://dx.doi.org/10.3390/ijerph19116456
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author Benito-Lozano, Juan
Arias-Merino, Greta
Gómez-Martínez, Mario
Ancochea-Díaz, Alba
Aparicio-García, Aitor
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
author_facet Benito-Lozano, Juan
Arias-Merino, Greta
Gómez-Martínez, Mario
Ancochea-Díaz, Alba
Aparicio-García, Aitor
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
author_sort Benito-Lozano, Juan
collection PubMed
description Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level.
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spelling pubmed-91802642022-06-10 Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay Benito-Lozano, Juan Arias-Merino, Greta Gómez-Martínez, Mario Ancochea-Díaz, Alba Aparicio-García, Aitor Posada de la Paz, Manuel Alonso-Ferreira, Verónica Int J Environ Res Public Health Article Many people living with rare disease (RD) report a difficult diagnostic process from the symptom onset until they obtain the definitive diagnosis. The aim of this study was thus to ascertain the diagnostic process in RDs, and explore the determinants related with having to wait for more than one year in this process (defined as “diagnostic delay”). We conducted a case–control study, using a purpose-designed form from the Spanish Rare Diseases Patient Registry for data-collection purposes. A descriptive analysis was performed and multivariate backward logistic regression models fitted. Based on data on 1216 patients living with RDs, we identified a series of determinants associated with experiencing diagnostic delay. These included: having to travel to see a specialist other than that usually consulted in the patient’s home province (OR 2.1; 95%CI 1.6–2.9); visiting more than 10 specialists (OR 2.6; 95%CI 1.7–4.0); being diagnosed in a region other than that of the patient’s residence at the date of symptom onset (OR 2.3; 95%CI 1.5–3.6); suffering from a RD of the nervous system (OR 1.4; 95%CI 1.0–1.8). In terms of time taken to see a specialist, waiting more than 6 months to be referred from the first medical visit was the period of time which most contributed to diagnostic delay (PAR 30.2%). In conclusion, this is the first paper to use a collaborative study based on a nationwide registry to address the diagnostic process of patients living with RDs. While the evidence shows that the diagnostic process experienced by these persons is complex, more studies are needed to determine the implications that this has for their lives and those of their families at a social, educational, occupational, psychological, and financial level. MDPI 2022-05-26 /pmc/articles/PMC9180264/ /pubmed/35682039 http://dx.doi.org/10.3390/ijerph19116456 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Benito-Lozano, Juan
Arias-Merino, Greta
Gómez-Martínez, Mario
Ancochea-Díaz, Alba
Aparicio-García, Aitor
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title_full Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title_fullStr Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title_full_unstemmed Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title_short Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay
title_sort diagnostic process in rare diseases: determinants associated with diagnostic delay
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9180264/
https://www.ncbi.nlm.nih.gov/pubmed/35682039
http://dx.doi.org/10.3390/ijerph19116456
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