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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Detalles Bibliográficos
Autores: Benito-Lozano, Juan, López-Villalba, Blanca, Arias-Merino, Greta, Posada De la Paz, Manuel, Alonso-Ferreira, Veronica
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/15283
Acceso en línea:http://hdl.handle.net/20.500.12105/15283
Access Level:acceso abierto
Palabra clave:Rare Diseases
Delayed Diagnosis
Humans
Female
Adult
Spain
Registries
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spelling Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registryBenito-Lozano, JuanLópez-Villalba, BlancaArias-Merino, GretaPosada De la Paz, ManuelAlonso-Ferreira, VeronicaRare DiseasesDelayed DiagnosisHumansFemaleAdultSpainRegistriesBackground: 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.BioMed Central (BMC)Ministerio de Ciencia, Innovación y Universidades (España)Agencia Estatal de Investigación (España)20222022-12-1620222022-11-1720222022-11-17research articlehttp://purl.org/coar/resource_type/c_2df8fbb1VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12105/15283reponame:Repisaludinstname:Instituto de Salud Carlos III (ISCIII)Inglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:repisalud.isciii.es:20.500.12105/152832026-06-12T12:43:37Z
dc.title.none.fl_str_mv 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
spellingShingle Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
Benito-Lozano, Juan
Rare Diseases
Delayed Diagnosis
Humans
Female
Adult
Spain
Registries
title_short 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_sort Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
dc.creator.none.fl_str_mv Benito-Lozano, Juan
López-Villalba, Blanca
Arias-Merino, Greta
Posada De la Paz, Manuel
Alonso-Ferreira, Veronica
author Benito-Lozano, Juan
author_facet Benito-Lozano, Juan
López-Villalba, Blanca
Arias-Merino, Greta
Posada De la Paz, Manuel
Alonso-Ferreira, Veronica
author_role author
author2 López-Villalba, Blanca
Arias-Merino, Greta
Posada De la Paz, Manuel
Alonso-Ferreira, Veronica
author2_role author
author
author
author
dc.contributor.none.fl_str_mv Ministerio de Ciencia, Innovación y Universidades (España)
Agencia Estatal de Investigación (España)
dc.subject.none.fl_str_mv Rare Diseases
Delayed Diagnosis
Humans
Female
Adult
Spain
Registries
topic Rare Diseases
Delayed Diagnosis
Humans
Female
Adult
Spain
Registries
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.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-12-16
2022
2022-11-17
2022
2022-11-17
dc.type.none.fl_str_mv research article
http://purl.org/coar/resource_type/c_2df8fbb1
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12105/15283
url http://hdl.handle.net/20.500.12105/15283
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv BioMed Central (BMC)
publisher.none.fl_str_mv BioMed Central (BMC)
dc.source.none.fl_str_mv reponame:Repisalud
instname:Instituto de Salud Carlos III (ISCIII)
instname_str Instituto de Salud Carlos III (ISCIII)
reponame_str Repisalud
collection Repisalud
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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