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
Abstract 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....
Saved in:
| Main Authors: | , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-01-01
|
| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-024-03518-x |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832571339470274560 |
|---|---|
| author | José Hernández-Rodríguez Fernando Martínez-Valle Xènia Acebes Carmen Alerany Jordi Antón Gonzalo Calvo Marian Corral Jordi Cruz M. Antònia Mangues-Bafalluy José Mateo Josefa Rivera Albert Salazar Roser Francisco Cristina Mallol Rita Reig-Viader Ariadna Tigri-Santiña Assumpta Ricart Francesc Palau |
| author_facet | José Hernández-Rodríguez Fernando Martínez-Valle Xènia Acebes Carmen Alerany Jordi Antón Gonzalo Calvo Marian Corral Jordi Cruz M. Antònia Mangues-Bafalluy José Mateo Josefa Rivera Albert Salazar Roser Francisco Cristina Mallol Rita Reig-Viader Ariadna Tigri-Santiña Assumpta Ricart Francesc Palau |
| author_sort | José Hernández-Rodríguez |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-e311fb8961cf4c0b9092c2dc8a514754 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-e311fb8961cf4c0b9092c2dc8a5147542025-02-02T12:42:19ZengBMCOrphanet Journal of Rare Diseases1750-11722025-01-0120111410.1186/s13023-024-03518-xIdentification 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” projectJosé Hernández-Rodríguez0Fernando Martínez-Valle1Xènia Acebes2Carmen Alerany3Jordi Antón4Gonzalo Calvo5Marian Corral6Jordi Cruz7M. Antònia Mangues-Bafalluy8José Mateo9Josefa Rivera10Albert Salazar11Roser Francisco12Cristina Mallol13Rita Reig-Viader14Ariadna Tigri-Santiña15Assumpta Ricart16Francesc Palau17Clínic Program for Rare Diseases, Department of Autoimmune Diseases, Hospital Clínic de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of BarcelonaDivision of Systemic Autoimmune Diseases, Internal Medicine Department, Hospital Universitari Vall d’HebronHealthCare Management Department, Hospital de la Santa Creu i Sant PauPharmacy Department, Hospital Universitari Vall d’HebronPediatric Rheumatology Department, Hospital Sant Joan de Déu, Department of Surgery, Medical-Surgical Specialties and Pediatrics, University of Barcelona, Institut de Recerca Sant Joan de DéuDepartment of Clinical Pharmacology, Area del Medicament, Hospital Clinic de Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)Asociación Española de Laboratorios de Medicamentos Huérfanos y Ultrahuérfanos (AELMHU)FEDER (Federación Española de Enfermedades Raras) FoundationPharmacy Department, Hospital de la Santa Creu i Sant PauThrombosis and Hemostasis Unit, Department of Hematology, Hospital de la Santa Creu i Sant PauRare Diseases Unit, Parc Taulí University HospitalHealth Services Research Group, General Management, Hospital Universitari Vall d’HebronRare Diseases Program, Catalan Health Service and Ministry of Health, Generalitat de CatalunyaRare Diseases Program, Catalan Health Service and Ministry of Health, Generalitat de CatalunyaRare Diseases Program, Catalan Health Service and Ministry of Health, Generalitat de CatalunyaRare Diseases Program, Catalan Health Service and Ministry of Health, Generalitat de CatalunyaRare Diseases Program, Catalan Health Service and Ministry of Health, Generalitat de CatalunyaLaboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de DéuAbstract 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.https://doi.org/10.1186/s13023-024-03518-xRare diseasesPerson living with a rare diseaseComprehensive carePatient journeyHealthcare systemFocus group |
| spellingShingle | José Hernández-Rodríguez Fernando Martínez-Valle Xènia Acebes Carmen Alerany Jordi Antón Gonzalo Calvo Marian Corral Jordi Cruz M. Antònia Mangues-Bafalluy José Mateo Josefa Rivera Albert Salazar Roser Francisco Cristina Mallol Rita Reig-Viader Ariadna Tigri-Santiña Assumpta Ricart Francesc Palau 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 Orphanet Journal of Rare Diseases Rare diseases Person living with a rare disease Comprehensive care Patient journey Healthcare system Focus group |
| 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 |
| 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_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_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 |
| topic | Rare diseases Person living with a rare disease Comprehensive care Patient journey Healthcare system Focus group |
| url | https://doi.org/10.1186/s13023-024-03518-x |
| work_keys_str_mv | AT josehernandezrodriguez identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT fernandomartinezvalle identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT xeniaacebes identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT carmenalerany identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT jordianton identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT gonzalocalvo identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT mariancorral identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT jordicruz identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT mantoniamanguesbafalluy identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT josemateo identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT josefarivera identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT albertsalazar identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT roserfrancisco identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT cristinamallol identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT ritareigviader identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT ariadnatigrisantina identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT assumptaricart identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject AT francescpalau identificationofstrengthsandweaknessesofthehealthcaresystemforpersonslivingwithrarediseasesincataloniaspainandrecommendationstoimproveitscomprehensiveattentiontheacercalasenfermedadesrarasproject |