Costing strategies for genomic diagnostic interventions in rare diseases: A scoping review protocol
Resumo
Rare diseases are a public health issue and the possibilities of diagnosing them have increased in recent years with genomic and other omics technologies, which are usually complex, sophisticated and expensive. This study aims to map and develop a summary of the costing methodologies used to assess genomic technologies adopted to diagnose rare diseases and identify the most relevant cost items. The review will be conducted under the Joanna Briggs Institute guidelines. Structured according to the PRISMA-P checklist, the presented protocol aims to document the processes involved in the review's methodological planning and conducting. The PCC strategy (population, concept, and context) will systematize the search for studies published in the MEDLINE, Embase, LILACS, Web of Science, Scopus, and NHS Economic Evaluation Database from January/2000 to December/2024. Two independent reviewers will select the articles in two stages (title and abstract, followed by evaluating the article's full text), adopting predefined inclusion and exclusion criteria, and a third reviewer will decide on any disagreements. Data will be extracted from the selected articles' full text and supplementary materials. The results will be analyzed considering the genomic technologies and the costing methodologies, and presented in a descriptive format using narrative summaries, figures, tables, and flowcharts.
Doenças raras são um problema de saúde pública e as possibilidades de as diagnosticar aumentaram nos últimos anos com as tecnologias genômicas e outras tecnologias ômicas, que são complexas, sofisticadas e dispendiosas. Este estudo pretende mapear e desenvolver síntese das metodologias de custeio utilizadas para avaliar as tecnologias genômicas para diagnosticar doenças raras e identificar os itens de custo mais relevantes. A revisão será realizada conforme as diretrizes do Instituto Joanna Briggs. O protocolo apresentado visa documentar os processos envolvidos no planejamento e condução metodológica da revisão, de acordo com a lista de verificação PRISMA-P. A estratégia PCC (população, conceito e contexto) sistematizará a pesquisa de estudos publicados nas bases de dados MEDLINE, Embase, LILACS, Web of Science, Scopus e NHS Economic Evaluation, no período de janeiro/2000 a dezembro/2024. Dois revisores independentes selecionarão os artigos em duas fases (título e resumo, seguido da avaliação do texto completo), adotando critérios de inclusão e exclusão pré-definidos, e um terceiro revisor decidirá sobre eventuais discordâncias. Os dados serão extraídos do texto completo e dos materiais complementares dos artigos selecionados. Os resultados serão analisados segundo as tecnologias genômicas e as metodologias de custeio, e descritos em formato de resumos narrativos, figuras, tabelas e fluxogramas.
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