Costing strategies for genomic diagnostic interventions in rare diseases: A scoping review protocol

Resumo

The ability to diagnose rare diseases has increased with the recent development of genomic technologies. Their complexity and high cost create barriers to broader dissemination. Cost-related information is crucial for wider adoption. This study aims to map and synthesize the costing methodologies used in economic evaluations of genomic technologies applied to rare disease diagnosis and to identify the most relevant cost items. The presented protocol seeks to document the processes involved in planning and conducting the methodological review, which will follow the Joanna Briggs Institute guidelines. The PCC framework (Population, Concept, Context) will systematize the search for published studies in the MEDLINE, Embase, LILACS, Web of Science, Scopus, and NHS Economic Evaluation databases, covering January 2000 to December 2024. Two independent reviewers will select articles in two phases (title/abstract screening followed by full-text assessment), applying predefined inclusion and exclusion criteria, with disagreements resolved by a third reviewer. Results will be analyzed according to genomic technologies and costing methodologies, and presented as narrative summaries, figures, tables, and flowcharts. The synthesis may contribute to the design of cost studies and economic evaluations of these technologies in Brazil.