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Health Policies for Rare Disease Patients: A Scoping Review

Author

Listed:
  • Luís Carlos Lopes-Júnior

    (Health Sciences Center, Graduate Program in Public Health, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Victor Evangelista Faria Ferraz

    (Ribeirão Preto Medical School, University of São Paulo (USP), Ribeirão Preto 14049-900, SP, Brazil)

  • Regina Aparecida Garcia Lima

    (Ribeirão Preto College of Nursing (USP), University of São Paulo, Ribeirão Preto 14040-902, SP, Brazil)

  • Sara Isabel Pimentel Carvalho Schuab

    (Nursing Department, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Raphael Manhães Pessanha

    (Health Sciences Center, Graduate Program in Public Health, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Geisa Santos Luz

    (Hospital de Clínicas da Faculdade de Medicina de Marília (HCFAMEMA), Marília 17519-080, SP, Brazil)

  • Mariana Rabello Laignier

    (Nursing Department, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Karolini Zuqui Nunes

    (Department of Integrated Health Education, Graduate Program in Nutrition and Health, Federal University of Espírito Santo (UFES), Vitoria 29043-213, ES, Brazil)

  • Andressa Bolsoni Lopes

    (Department of Integrated Health Education, Graduate Program in Nutrition and Health, Federal University of Espírito Santo (UFES), Vitoria 29043-213, ES, Brazil)

  • Jonathan Grassi

    (Health Sciences Center, Graduate Program in Public Health, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Juliana Almeida Moreira

    (Department of Integrated Health Education, Graduate Program in Nutrition and Health, Federal University of Espírito Santo (UFES), Vitoria 29043-213, ES, Brazil)

  • Fabrine Aguilar Jardim

    (Ribeirão Preto College of Nursing (USP), University of São Paulo, Ribeirão Preto 14040-902, SP, Brazil)

  • Franciéle Marabotti Costa Leite

    (Health Sciences Center, Graduate Program in Public Health, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Paula de Souza Silva Freitas

    (Nursing Department, Federal University of Espírito Santo (UFES), Vitoria 29047-105, ES, Brazil)

  • Silvia Regina Bertolini

    (Department of Management and Health Care, Federal University of São Paulo (UNIFESP), São Paulo 04021-001, SP, Brazil)

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.

Suggested Citation

  • Luís Carlos Lopes-Júnior & Victor Evangelista Faria Ferraz & Regina Aparecida Garcia Lima & Sara Isabel Pimentel Carvalho Schuab & Raphael Manhães Pessanha & Geisa Santos Luz & Mariana Rabello Laignie, 2022. "Health Policies for Rare Disease Patients: A Scoping Review," IJERPH, MDPI, vol. 19(22), pages 1-19, November.
    • Handle: RePEc:gam:jijerp:v:19:y:2022:i:22:p:15174-:d:975631
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    References listed on IDEAS

    as
    1. Mariana Rabello Laignier & Luís Carlos Lopes-Júnior & Raquel Esperidon Santana & Franciéle Marabotti Costa Leite & Carolina Laura Brancato, 2021. "Down Syndrome in Brazil: Occurrence and Associated Factors," IJERPH, MDPI, vol. 18(22), pages 1-11, November.
    2. Luís Carlos Lopes‐Júnior & Paulo Marcondes Carvalho Júnior & Victor Evangelista de Faria Ferraz & Lucila Castanheira Nascimento & Marcia Van Riper & Milena Flória‐Santos, 2017. "Genetic education, knowledge and experiences between nurses and physicians in primary care in Brazil: A cross‐sectional study," Nursing & Health Sciences, John Wiley & Sons, vol. 19(1), pages 66-74, March.
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