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
Por:
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
Publicada:
29 ene 2025
Resumen:
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.
Filiaciones:
Hernández-Rodríguez, J:
Univ Barcelona, Hosp Clin Barcelona, Inst Invest Biomed August Pi i Sunyer IDIBAPS, Dept Autoimmune Dis,Clin Program Rare Dis, Barcelona, Spain
Martínez-Valle, F:
Hosp Univ Vall dHebron, Internal Med Dept, Div Syst Autoimmune Dis, Barcelona, Spain
Acebes, X:
Hosp Santa Creu i St Pau, HealthCare Management Dept, Barcelona, Spain
Alerany, C:
Hosp Univ Vall dHebron, Pharm Dept, Barcelona, Spain
Antón, J:
Univ Barcelona, Hosp St Joan Deu, Inst Recerca St Joan Deu, Pediat Rheumatol Dept,Dept Surg Med Surg Specialti, Barcelona, Spain
Calvo, G:
Hosp Clin Barcelona, Inst Invest Biomed August Pi i Sunyer IDIBAPS, Dept Clin Pharmacol, Area Medicament, Barcelona, Spain
Corral, M:
Asociac Espanola Labs Medicamentos Huerfanos & Ult, Barcelona, Spain
Cruz, J:
FEDER Federac Espanola Enfermedades Raras Fdn, Madrid, Spain
MPS Lisosomales Assoc, Barcelona, Spain
Mangues-Bafalluy, MA:
Hosp Stanta Creu i St Pau, Pharm Dept, Barcelona, Spain
Mateo, J:
Hosp Santa Creu i St Pau, Dept Hematol, Thrombosis & Hemostasis Unit, Barcelona, Spain
Rivera, J:
Parc Tauli Univ Hosp, Rare Dis Unit, Sabadell, Barcelona, Spain
Salazar, A:
Hosp Univ Vall dHebron, Hlth Serv Res Grp, Gen Management, Barcelona, Spain
Francisco, R:
Catalan Hlth Serv, Rare Dis Program, Barcelona, Spain
Minist Hlth, Generalitat Catalunya, Barcelona, Spain
Mallol, C:
Catalan Hlth Serv, Rare Dis Program, Barcelona, Spain
Minist Hlth, Generalitat Catalunya, Barcelona, Spain
Reig-Viader, R:
Catalan Hlth Serv, Rare Dis Program, Barcelona, Spain
Minist Hlth, Generalitat Catalunya, Barcelona, Spain
Tigri-Santiña, A:
Catalan Hlth Serv, Rare Dis Program, Barcelona, Spain
Minist Hlth, Generalitat Catalunya, Barcelona, Spain
Ricart, A:
Catalan Hlth Serv, Rare Dis Program, Barcelona, Spain
Minist Hlth, Generalitat Catalunya, Barcelona, Spain
Catalan Hlth Serv, Integrated Hlth Proc Dept, Healthcare Area, Barcelona, Spain
Palau, F:
Hosp St Joan Deu, Inst Recerca St Joan Deu, Ctr Genom Sci Med, Unicas SJD Ctr,Lab Neurogenet & Mol Med, Barcelona, Spain
ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain
Univ Autonoma Barcelona, Div Pediat Anestethesiol, Barcelona, Spain
Green Submitted, gold
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