Health Policies for Rare Disease Patients: A Scoping Review
Luís Carlos Lopes‐Júnior, Victor Evangelista de Faria Ferraz, Regina Aparecida Garcia de Lima, Sara Isabel Pimentel Carvalho Schuab, Raphael Manhães Pessanha, Geisa Santos Luz, Mariana Rabello Laignier, Karolini Zuqui Nunes, Andressa Bolsoni Lopes, Jonathan Grassi, Juliana Almeida Moreira, Fabrine Aguilar Jardim, Franciéle Marabotti Costa Leite, Paula de Souza Silva Freitas, Silvia Regina Bertolini
Abstract
OBJECTIVE: To identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries. METHOD: A scoping review guided by the PRISMA-ScR and JBI checklists. The search for articles was conducted in eight electronic databases, MEDLINE/Pubmed, Embase, Cochrane Library, Web of Science, Scopus, CINAHL, PsycINFO, and LILACS, using controlled descriptors, synonyms, and keywords combined with Boolean operators. All steps of this review were independently conducted by two researchers. The selected studies were classified by evidence hierarchy, and a generic quantitative tool was used for the assessment of the studies. RESULTS: A total of 473 studies were identified, of which 13 which met all the inclusion criteria were selected and analyzed. Of these studies, 61.5% (n = 8) had final scores equal to or greater than 70%, i.e., they were classified by this tool as being well-reported. The comparative analysis of international rare diseases demonstrates that public authorities' priorities and recommendations regarding this topic also permeate and apply to the Brazilian context. CONCLUSIONS: The evaluation and monitoring of public policies directed at rare disease patients are urgent and necessary to improve and implement such policies with less bureaucracy and more determination for this unique population that requires timely and high-quality care.