Toward a Common Set of Interface Requirements for Genomic Data Management: Scoping Review.

backgroundGenomic data can advance precision medicine; however, to continue developing more targeted treatments, genomic datasets need to be integrated with health care data and become more disease-focused. This integration, in turn, amplifies existing challenges in health care data management, such as handling large data volumes, adhering to data standards, and protecting sensitive information. Addressing these challenges calls for unified digital ecosystems that combine data collection, standardization, analysis, and governance within a single platform, thereby reducing the technical burden for users. Currently, a clear set of indications about functional and nonfunctional requirements to help designers translate stakeholder needs into actionable design specifications is missing.

objectiveThis scoping review aimed to identify the functional and nonfunctional requirements most frequently discussed in the literature from the perspective of end users (eg, clinicians and data analysts) to inform the design of a health and genomic data management platform that supports data sharing and analysis in clinical settings by conducting a PRISMA-ScR (Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Review) review.

methodsWe searched for peer-reviewed English studies that focused on platforms for managing genomic data from a user-centered perspective. We considered studies from 2014 to 2024 that were extracted from Scopus, PubMed, Web of Science, and Google Scholar for the scoping review. Insights were extrapolated for a thematic analysis to develop an initial set of requirements. We charted the functional and nonfunctional requirements according to their frequency of occurrence in the literature to provide a structured overview of the most commonly reported requirements.

resultsFrom 410 initial items, 210 items were preliminarily selected, and 53 items were included in the final analysis. Three primary groups of 26 interface functional requirements emerged: (1) general data management (acquisition, standardization, and sharing), (2) data processing and analysis (preprocessing and analysis pipelines), and (3) data visualization and reporting. Twenty nonfunctional requirements were identified and organized in 4 groups: (1) communication and support, (2) platform technical infrastructure, (3) user experience and user interface characteristics, and (4) security and compliance. We also investigated the issues that need to be resolved to develop an ideal platform.

conclusionsWe identified and mapped the most frequently reported functional and nonfunctional requirements of clinical and data professionals when discussing a health and genomic data management platform. The 3 key functional requirements should be supported by nonfunctional requirements such as secure technical infrastructure and governance mechanisms that enable compliant data processing and sharing. Designers may use these insights and mapping to develop standardized data platforms that promote efficient data exchange between institutions and experts while ensuring regulatory compliance and secure access, as proposed by the European Health Data Space.