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
Background: Rare 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. Objecti...
| Autores: | , , , , , , , , , , , , , , , , , |
|---|---|
| Tipo de recurso: | artículo |
| Fecha de publicación: | 2025 |
| País: | España |
| Institución: | Universitat Autònoma de Barcelona |
| Repositorio: | Dipòsit Digital de Documents de la UAB |
| Idioma: | inglés |
| OAI Identifier: | oai:ddd.uab.cat:320385 |
| Acceso en línea: | https://ddd.uab.cat/record/320385 https://dx.doi.org/urn:doi:10.1186/s13023-024-03518-x |
| Access Level: | acceso abierto |
| Palabra clave: | Comprehensive care Focus group Healthcare system Patient journey Person living with a rare disease Rare diseases |
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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 |
| 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 Hernández Rodríguez, José|||0000-0002-2357-2015 Comprehensive care Focus group Healthcare system Patient journey Person living with a rare disease Rare diseases |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| dc.creator.none.fl_str_mv |
Hernández Rodríguez, José|||0000-0002-2357-2015 Martinez Valle, Fernando|||0000-0003-2673-2034 Acebes, X.|||0000-0001-6449-938X Alerany, Carmen Antón, Jordi|||0000-0002-8792-4219 Calvo Rojas, Gonzalo|||0000-0001-8860-6653 Corral, M. Cruz, J. Mangues, Ma Antonia|||0000-0002-1438-8515 Mateo, Jose|||0000-0002-4227-3256 Rivera, Josefa Salazar, Albert Francisco, R. Mallol, Cristina|||0000-0002-2920-9612 Reig-Viader, Rita|||0000-0002-6893-6177 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Ricart, A. Palau, F. |
| author |
Hernández Rodríguez, José|||0000-0002-2357-2015 |
| author_facet |
Hernández Rodríguez, José|||0000-0002-2357-2015 Martinez Valle, Fernando|||0000-0003-2673-2034 Acebes, X.|||0000-0001-6449-938X Alerany, Carmen Antón, Jordi|||0000-0002-8792-4219 Calvo Rojas, Gonzalo|||0000-0001-8860-6653 Corral, M. Cruz, J. Mangues, Ma Antonia|||0000-0002-1438-8515 Mateo, Jose|||0000-0002-4227-3256 Rivera, Josefa Salazar, Albert Francisco, R. Mallol, Cristina|||0000-0002-2920-9612 Reig-Viader, Rita|||0000-0002-6893-6177 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Ricart, A. Palau, F. |
| author_role |
author |
| author2 |
Martinez Valle, Fernando|||0000-0003-2673-2034 Acebes, X.|||0000-0001-6449-938X Alerany, Carmen Antón, Jordi|||0000-0002-8792-4219 Calvo Rojas, Gonzalo|||0000-0001-8860-6653 Corral, M. Cruz, J. Mangues, Ma Antonia|||0000-0002-1438-8515 Mateo, Jose|||0000-0002-4227-3256 Rivera, Josefa Salazar, Albert Francisco, R. Mallol, Cristina|||0000-0002-2920-9612 Reig-Viader, Rita|||0000-0002-6893-6177 Tigri-Santiña, Ariadna|||0000-0003-2765-0065 Ricart, A. Palau, F. |
| author2_role |
author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Universitat Autònoma de Barcelona |
| dc.subject.none.fl_str_mv |
Comprehensive care Focus group Healthcare system Patient journey Person living with a rare disease Rare diseases |
| topic |
Comprehensive care Focus group Healthcare system Patient journey Person living with a rare disease Rare diseases |
| description |
Background: Rare 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: The 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 Clínica 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. Methods: A 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. Results: The 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. Conclusions: Catalonia 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 |
2 2025-01-01 2025 2025-01-01 |
| dc.type.none.fl_str_mv |
Article http://purl.org/coar/resource_type/c_6501 VoR http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.openaire.fl_str_mv |
info:eu-repo/semantics/article |
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article |
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https://ddd.uab.cat/record/320385 https://dx.doi.org/urn:doi:10.1186/s13023-024-03518-x |
| url |
https://ddd.uab.cat/record/320385 https://dx.doi.org/urn:doi:10.1186/s13023-024-03518-x |
| dc.language.none.fl_str_mv |
Inglés eng |
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Inglés |
| language |
eng |
| dc.rights.none.fl_str_mv |
open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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open access http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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application/pdf |
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reponame:Dipòsit Digital de Documents de la UAB instname:Universitat Autònoma de Barcelona |
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Universitat Autònoma de Barcelona |
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Dipòsit Digital de Documents de la UAB |
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Dipòsit Digital de Documents de la UAB |
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1869415602180849664 |
| 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 attentionthe "acERca las enfermedades raras" projectHernández Rodríguez, José|||0000-0002-2357-2015Martinez Valle, Fernando|||0000-0003-2673-2034Acebes, X.|||0000-0001-6449-938XAlerany, CarmenAntón, Jordi|||0000-0002-8792-4219Calvo Rojas, Gonzalo|||0000-0001-8860-6653Corral, M.Cruz, J.Mangues, Ma Antonia|||0000-0002-1438-8515Mateo, Jose|||0000-0002-4227-3256Rivera, JosefaSalazar, AlbertFrancisco, R.Mallol, Cristina|||0000-0002-2920-9612Reig-Viader, Rita|||0000-0002-6893-6177Tigri-Santiña, Ariadna|||0000-0003-2765-0065Ricart, A.Palau, F.Comprehensive careFocus groupHealthcare systemPatient journeyPerson living with a rare diseaseRare diseasesBackground: Rare 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: The 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 Clínica 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. Methods: A 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. Results: The 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. Conclusions: Catalonia 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.Universitat Autònoma de Barcelona 22025-01-0120252025-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/320385https://dx.doi.org/urn:doi:10.1186/s13023-024-03518-xreponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:3203852026-06-06T12:50:31Z |
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15,811543 |