Genomic sequence data sharing for clinical practice: A scoping review

A key barrier to scaling genomic medicine is sharing patient genomic data. This study assesses current genomic data sharing approaches, infrastructure, and guidelines, while incorporating insights from national initiatives and industry to ensure broad relevance. We aim to provide a foundation for dialogue by highlighting current challenges and barriers while promoting actionable standards and future points of emphasis. Our analysis uses Arksey & O’Malley’s scoping review framework to survey peer-reviewed articles, gray literature, national genomics initiatives, and corporate strategies to address four questions revolving around what genome data sharing approaches exist in: 1. Clinical-care, 2. Research, 3. National genome initiatives, and 4. Corporations. We identified 55 studies, separated them into groups, and determined 7 core components of an implementable technology. Notably, the studies included 15 clinical genome sharing implementations, 9 research-focused frameworks, and 13 ethical/legal guidelines. We also analyzed 57 active national genome initiatives and 20 major genomics companies. We found implementations for clinical genomic data sharing exist, yet scalability and widespread adoption remain limited. We identify scalability, clinical versus research-grade infrastructure requirements, and genomic medicine maturity as main challenges to overcome and suggest 4 steps that will encourage a unified path forward. Our discussion aims to facilitate discourse and catalyze future genomic data sharing system innovation.

@article{crum_genomesharing_computersbiomed_2025,
  author = {Crum, Elias and Taelman, Ruben and Buelens, Bart and Ertaylan, Gokhan},
  title = {Genomic sequence data sharing for clinical practice: A scoping review},
  month = jan,
  journal = {Computers in Biology and Medicine},
  volume = {200},
  pages = {111335},
  year = {2026},
  url = {https://www.sciencedirect.com/science/article/pii/S0010482525016890},
  issn = {0010-4825},
  doi = {https://doi.org/10.1016/j.compbiomed.2025.111335},
  keywords = {Human genome data, Data sharing, Genomic data privacy, Clinical genomics, Implementations}
}