JMIR Publications

ABSTRACT

Background:

Genomic data now plays a critical role in patient care, supporting everything from drug development to better transplant outcomes. As such, effective genomic data management is essential for accelerating research aimed at increasing diagnostic accuracy, treatment effectiveness, and long-term outcomes for patients with chronic and rare diseases. A central challenge in health data management is designing platforms that enable secure, standardized data handling and analysis while meeting the functional and non-functional requirements of diverse stakeholders and ensuring data owners retain control over access and use.

Objective:

We conducted a PRISMA literature review to identify functional and non-functional requirements deemed essential by practitioners, e.g., clinicians, data analysts, etc. The goal of these requirements is to serve in the design of a health and genomic data management platform that supports data sharing and analysis in clinical settings.

Methods:

We searched for peer-reviewed English studies from 2014 to 2024 in Scopus, PubMed, Web of Science, and Google Scholar. A thematic analysis was used to identify and rank platform functional and non-functional requirements based on their frequency of occurrence in the literature.

Results:

From 410 initial items, 210 items were selected preliminary, and 53 items were included in the final analysis. Three primary groups of 26 interface functional requirements emerged: i) General data management (acquisition, standardization, sharing); ii) Data processing and analysis (pre-processing and analysis pipelines); iii) Data visualization and reporting. Additionally, 20 non-functional requirements were identified, and organized in four groups: i) Communication and support ii) Platform technical infrastructure, iii) User experience and user interface characteristics, and iv) Security and compliance. While discussing these functional and non-functional requirements in detail, we also investigate the issues that need to be resolved to develop an ideal platform.

Conclusions:

This work maps the process usage and requirements (functional and non-functional) to develop a platform for health and genomic data management, analysis and sharing. These findings inform the development of standardized data platforms that promote efficient data exchange between institutions (i.e., hospitals, research institutes, etc.) and experts, while ensuring regulatory compliance and secure access, as proposed by the European Health Data Space.