Integration, Cataloguing and Management of Biobanking and Clinical Data Using FAIR Genomes Metadata Schema

• Authors: KACOVÁ Radoslava; HOUFEK Tomáš; HORKÝ Ondřej; TOMÁŠIK Radovan; KURÁŇ Jan; RŮŽIČKA Michal; HRSTKA Roman; NOVÁČEK Vít; DUDOVÁ Zdenka
• Year of publication: 2025
• Type: Article in Periodical
• Magazine / Source: Data Intelligence
• MU Faculty or unit: Faculty of Informatics
• web: https://www.sciengine.com/DI/doi/10.3724/2096-7004.di.2025.0005
• Doi: http://dx.doi.org/10.3724/2096-7004.di.2025.0005
• Keywords: FAIR data point; FAIR principles; Metadata; Interoperability; Secondary use of healthcare data; Hospital-generated data; Genomic data; Data sharing
• Description: In the dynamic environment of hospitals, valuable real-world data often remain underutilised despite their potential to revolutionize cancer research and personalised medicine. This study explores the challenges and opportunities in managing hospital-generated data, particularly within the Masaryk Memorial Cancer Institute (MMCI) in Brno, Czech Republic. Utilizing Next-Generation Sequencing (NGS) technology, MMCI generates substantial volumes of genomic data. Due to inadequate curation, these data remain difficult to integrate with clinical records for secondary use (such as personalised treatment outcome prediction and patient stratification based on their genomic profiles). This paper proposes solutions based on the FAIR principles (Findability, Accessibility, Interoperability, and Reusability) to enhance data sharing and reuse. The primary output of our work is the development of an automated pipeline that continuously processes and integrates NGS data with clinical and biobank information upon their creation. It stores the data in a special secured repository for sensitive data in a structured form to ensure smooth retrieval.