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Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry

BACKGROUND: According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondl...

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Autores principales: Benito-Lozano, Juan, López-Villalba, Blanca, Arias-Merino, Greta, Posada de la Paz, Manuel, Alonso-Ferreira, Verónica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670379/
https://www.ncbi.nlm.nih.gov/pubmed/36397119
http://dx.doi.org/10.1186/s13023-022-02530-3
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author Benito-Lozano, Juan
López-Villalba, Blanca
Arias-Merino, Greta
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
author_facet Benito-Lozano, Juan
López-Villalba, Blanca
Arias-Merino, Greta
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
author_sort Benito-Lozano, Juan
collection PubMed
description BACKGROUND: According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondly, to identify and measure diagnostic delay (defined by the IRDiRC as any period exceeding a year) by reference to the characteristics of RDs and the persons affected by them. METHODS: Using data sourced from the Spanish Rare Diseases Patient Registry, we performed a descriptive analysis of the time elapsed between symptom onset and diagnosis of each RD, by sex, age and date of symptom onset, and type of RD. We analysed the time trend across the period 1960–2021 and possible change points, using a Joinpoint regression model and assuming a Poisson distribution. The multivariate analysis was completed with backward stepwise logistic regression. RESULTS: Detailed information was obtained on 3304 persons with RDs: 56.4% had experienced delay in diagnosis of their RDs, with the mean time taken being 6.18 years (median = 2; IQR 0.2–7.5). Both the percentage of patients with diagnostic delay and the average time to diagnosis underwent a significant reduction across the study period (p < 0.001). There was a higher percentage of diagnostic delays: in women (OR 1.25; 95% CI 1.07–1.45); in cases with symptom onset at age 30–44 years (OR 1.48; 95% CI 1.19–1.84): and when analysed by type of RD, in mental and behavioural disorders (OR 4.21; 95% CI 2.26–7.85), followed by RDs of the nervous system (OR 1.39; 95% CI 1.02–1.88). CONCLUSIONS: This is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02530-3.
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spelling pubmed-96703792022-11-18 Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry Benito-Lozano, Juan López-Villalba, Blanca Arias-Merino, Greta Posada de la Paz, Manuel Alonso-Ferreira, Verónica Orphanet J Rare Dis Research BACKGROUND: According to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year. This study sought: firstly, to ascertain how long it takes to obtain the diagnosis of a RD in Spain, along with its associated time trend; and secondly, to identify and measure diagnostic delay (defined by the IRDiRC as any period exceeding a year) by reference to the characteristics of RDs and the persons affected by them. METHODS: Using data sourced from the Spanish Rare Diseases Patient Registry, we performed a descriptive analysis of the time elapsed between symptom onset and diagnosis of each RD, by sex, age and date of symptom onset, and type of RD. We analysed the time trend across the period 1960–2021 and possible change points, using a Joinpoint regression model and assuming a Poisson distribution. The multivariate analysis was completed with backward stepwise logistic regression. RESULTS: Detailed information was obtained on 3304 persons with RDs: 56.4% had experienced delay in diagnosis of their RDs, with the mean time taken being 6.18 years (median = 2; IQR 0.2–7.5). Both the percentage of patients with diagnostic delay and the average time to diagnosis underwent a significant reduction across the study period (p < 0.001). There was a higher percentage of diagnostic delays: in women (OR 1.25; 95% CI 1.07–1.45); in cases with symptom onset at age 30–44 years (OR 1.48; 95% CI 1.19–1.84): and when analysed by type of RD, in mental and behavioural disorders (OR 4.21; 95% CI 2.26–7.85), followed by RDs of the nervous system (OR 1.39; 95% CI 1.02–1.88). CONCLUSIONS: This is the first study to quantify time to diagnosis of RDs in Spain, based on data from a national registry open to any RD. Since over half of all persons affected by RDs experience delay in diagnosis, new studies are needed to ascertain the factors associated with this delay and the implications this has on the lives of patients and their families. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-022-02530-3. BioMed Central 2022-11-17 /pmc/articles/PMC9670379/ /pubmed/36397119 http://dx.doi.org/10.1186/s13023-022-02530-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Benito-Lozano, Juan
López-Villalba, Blanca
Arias-Merino, Greta
Posada de la Paz, Manuel
Alonso-Ferreira, Verónica
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title_full Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title_fullStr Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title_full_unstemmed Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title_short Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
title_sort diagnostic delay in rare diseases: data from the spanish rare diseases patient registry
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9670379/
https://www.ncbi.nlm.nih.gov/pubmed/36397119
http://dx.doi.org/10.1186/s13023-022-02530-3
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