Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

BackgroundRare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.Objectives...

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Autores: Hernández-Rodríguez, J, Martínez-Valle, F, Acebes, X, Alerany, C, Antón, J, Calvo, G, Corral, M, Cruz, J, Mangues-Bafalluy, MA, Mateo, J, Rivera, J, Salazar, A, Francisco, R, Mallol, C, Reig-Viader, R, Tigri-Santiña, A, Ricart, A, Palau, F
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Institut d'Investigació i Innovació Parc Taulí (I3PT)
Repositorio:r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
OAI Identifier:oai:i3pt.fundanetsuite.com:p6244
Acceso en línea:https://i3pt.portalinvestigacion.com/publicaciones/6244
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85217272309&doi=10.1186%2Fs13023-024-03518-x&partnerID=40&md5=262eb91d92de1e742687816872c5ba6b
Access Level:acceso abierto
Palabra clave:Rare diseases
Person living with a rare disease
Comprehensive care
Patient journey
Healthcare system
Focus group
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spelling Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" projectHernández-Rodríguez, JMartínez-Valle, FAcebes, XAlerany, CAntón, JCalvo, GCorral, MCruz, JMangues-Bafalluy, MAMateo, JRivera, JSalazar, AFrancisco, RMallol, CReig-Viader, RTigri-Santiña, ARicart, APalau, FRare diseasesPerson living with a rare diseaseComprehensive carePatient journeyHealthcare systemFocus groupBackgroundRare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.ObjectivesThe project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Cl & iacute;nica or XUEC) was created and is being implemented since 2015. The additional primary aim was to propose recommendations to solve or improve the limitations found.MethodsA task force of 13 participants with multidisciplinary expertise on RDs completed a questionnaire and participated in two focus groups. A document was drafted with an item series of strengths and weaknesses of the healthcare system regarding the care of PLWRD, and a set of proposals or recommendations to overcome the problems identified.ResultsThe Catalan Government healthcare model of XUECs for the comprehensive care for RDs is currently valid and adapted to the needs of PLWRD and their families since its strategic optimal and operational framework, and it is aligned with the European Reference Networks (ERNs) thematic areas. The problems found in the current healthcare model were grouped into ten main areas: (1) the healthcare model for RDs; (2) coordination with primary healthcare providers and other tertiary and secondary hospitals; (3) access to and coordination with non-medical services; (4) the role of case manager in the XUEC; (5) genetic diagnosis; (6) undiagnosed patients; (7) treatments; (8) referring process, continuous follow-up, and transition from pediatric to adult centers; (9) research and education for professionals; and (10) associations of PLWRD and their families (patients' advocacy). The need for more resources was currently detected as the common factor for most of them. Ten key recommendations to improve the healthcare system regarding RDs were postulated.ConclusionsCatalonia has established a unique healthcare model for RDs in Spain, with clear strengths and advantages. However, after analyzing them, the experts suggested that new governmental political and administrative decisions are needed to ensure the efficient implementation of a healthcare plan for PLWRD in Catalonia, which could be applied to other regions and nations worldwide.BMC2025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://i3pt.portalinvestigacion.com/publicaciones/6244https://www.scopus.com/inward/record.uri?eid=2-s2.0-85217272309&doi=10.1186%2Fs13023-024-03518-x&partnerID=40&md5=262eb91d92de1e742687816872c5ba6bOrphanet Journal of Rare DiseasesISSN: 17501172reponame:r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulíinstname:Institut d'Investigació i Innovació Parc Taulí (I3PT)Inglésinfo:eu-repo/semantics/openAccessoai:i3pt.fundanetsuite.com:p62442026-06-21T15:30:37Z
dc.title.none.fl_str_mv Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
title Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
spellingShingle Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
Hernández-Rodríguez, J
Rare diseases
Person living with a rare disease
Comprehensive care
Patient journey
Healthcare system
Focus group
title_short Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
title_full Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
title_fullStr Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
title_full_unstemmed Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
title_sort Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project
dc.creator.none.fl_str_mv Hernández-Rodríguez, J
Martínez-Valle, F
Acebes, X
Alerany, C
Antón, J
Calvo, G
Corral, M
Cruz, J
Mangues-Bafalluy, MA
Mateo, J
Rivera, J
Salazar, A
Francisco, R
Mallol, C
Reig-Viader, R
Tigri-Santiña, A
Ricart, A
Palau, F
author Hernández-Rodríguez, J
author_facet Hernández-Rodríguez, J
Martínez-Valle, F
Acebes, X
Alerany, C
Antón, J
Calvo, G
Corral, M
Cruz, J
Mangues-Bafalluy, MA
Mateo, J
Rivera, J
Salazar, A
Francisco, R
Mallol, C
Reig-Viader, R
Tigri-Santiña, A
Ricart, A
Palau, F
author_role author
author2 Martínez-Valle, F
Acebes, X
Alerany, C
Antón, J
Calvo, G
Corral, M
Cruz, J
Mangues-Bafalluy, MA
Mateo, J
Rivera, J
Salazar, A
Francisco, R
Mallol, C
Reig-Viader, R
Tigri-Santiña, A
Ricart, A
Palau, F
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Rare diseases
Person living with a rare disease
Comprehensive care
Patient journey
Healthcare system
Focus group
topic Rare diseases
Person living with a rare disease
Comprehensive care
Patient journey
Healthcare system
Focus group
description BackgroundRare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.ObjectivesThe project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Cl & iacute;nica or XUEC) was created and is being implemented since 2015. The additional primary aim was to propose recommendations to solve or improve the limitations found.MethodsA task force of 13 participants with multidisciplinary expertise on RDs completed a questionnaire and participated in two focus groups. A document was drafted with an item series of strengths and weaknesses of the healthcare system regarding the care of PLWRD, and a set of proposals or recommendations to overcome the problems identified.ResultsThe Catalan Government healthcare model of XUECs for the comprehensive care for RDs is currently valid and adapted to the needs of PLWRD and their families since its strategic optimal and operational framework, and it is aligned with the European Reference Networks (ERNs) thematic areas. The problems found in the current healthcare model were grouped into ten main areas: (1) the healthcare model for RDs; (2) coordination with primary healthcare providers and other tertiary and secondary hospitals; (3) access to and coordination with non-medical services; (4) the role of case manager in the XUEC; (5) genetic diagnosis; (6) undiagnosed patients; (7) treatments; (8) referring process, continuous follow-up, and transition from pediatric to adult centers; (9) research and education for professionals; and (10) associations of PLWRD and their families (patients' advocacy). The need for more resources was currently detected as the common factor for most of them. Ten key recommendations to improve the healthcare system regarding RDs were postulated.ConclusionsCatalonia has established a unique healthcare model for RDs in Spain, with clear strengths and advantages. However, after analyzing them, the experts suggested that new governmental political and administrative decisions are needed to ensure the efficient implementation of a healthcare plan for PLWRD in Catalonia, which could be applied to other regions and nations worldwide.
publishDate 2025
dc.date.none.fl_str_mv 2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://i3pt.portalinvestigacion.com/publicaciones/6244
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85217272309&doi=10.1186%2Fs13023-024-03518-x&partnerID=40&md5=262eb91d92de1e742687816872c5ba6b
url https://i3pt.portalinvestigacion.com/publicaciones/6244
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85217272309&doi=10.1186%2Fs13023-024-03518-x&partnerID=40&md5=262eb91d92de1e742687816872c5ba6b
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv BMC
publisher.none.fl_str_mv BMC
dc.source.none.fl_str_mv Orphanet Journal of Rare Diseases
ISSN: 17501172
reponame:r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname:Institut d'Investigació i Innovació Parc Taulí (I3PT)
instname_str Institut d'Investigació i Innovació Parc Taulí (I3PT)
reponame_str r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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