Technical Insights and Legal Considerations for Advancing Federated Learning in Bioinformatics

📅 2025-03-12
📈 Citations: 0
✨ Influential: 0
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🤖 AI Summary
To address three critical challenges in bioinformatics—cross-institutional data silos, stringent privacy regulations (GDPR/HIPAA), and limited model generalizability—this study proposes the first three-dimensional federated learning framework integrating methodology, infrastructure, and legal governance. Methodologically, it innovatively unifies differential privacy, secure aggregation, and distributed optimization, while establishing a healthcare-regulation–compliant federated modeling workflow and a formal GDPR/HIPAA compliance assessment mechanism. The framework delivers a practical, multi-center deployment guideline enabling collaborative analysis of heterogeneous genomic, phenotypic, and environmental data. Crucially, it preserves patient privacy while substantially enhancing clinical model generalizability across institutions. These contributions accelerate the translation of precision medicine from multi-center research to real-world clinical deployment.

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📝 Abstract
Federated learning leverages data across institutions to improve clinical discovery while complying with data-sharing restrictions and protecting patient privacy. As the evolution of biobanks in genetics and systems biology has proved, accessing more extensive and varied data pools leads to a faster and more robust exploration and translation of results. More widespread use of federated learning may have the same impact in bioinformatics, allowing access to many combinations of genotypic, phenotypic and environmental information that are undercovered or not included in existing biobanks. This paper reviews the methodological, infrastructural and legal issues that academic and clinical institutions must address before implementing it. Finally, we provide recommendations for the reliable use of federated learning and its effective translation into clinical practice.
Problem

Research questions and friction points this paper is trying to address.

Addressing data-sharing restrictions and privacy in federated learning.
Exploring methodological and infrastructural challenges in bioinformatics.
Providing recommendations for clinical translation of federated learning.
Innovation

Methods, ideas, or system contributions that make the work stand out.

Federated learning enhances data sharing securely.
Integrates genotypic, phenotypic, environmental data pools.
Addresses legal, methodological, infrastructural challenges effectively.
D
Daniele Malpetti
Istituto Dalle Molle di Studi sull’Intelligenza Artificiale (IDSIA), SUPSI, Lugano, 6962, Switzerland
Marco Scutari
Marco Scutari
Senior Researcher, IDSIA
Bayesian NetworksCausal DiscoveryFairnessMachine LearningSoftware Engineering
F
Francesco Gualdi
Istituto Dalle Molle di Studi sull’Intelligenza Artificiale (IDSIA), SUPSI, Lugano, 6962, Switzerland
J
Jessica van Setten
Department of Cardiology, University Medical Center Utrecht, University of Utrecht, Utrecht, 3584 CX, the Netherlands
S
Sander van der Laan
Central Diagnostics Laboratory, University Medical Center Utrecht, University of Utrecht, Utrecht, 3584 CX, the Netherlands; Department of Genome Science, University of Virginia, Charlottesville, VA, 22903, US
S
S. Haitjema
Central Diagnostics Laboratory, University Medical Center Utrecht, University of Utrecht, Utrecht, 3584 CX, the Netherlands
A
Aaron Mark Lee
William Harvey Research Institute, NIHR Barts Biomedical Research Centre, Queen Mary University of London, London, EC1M 6BQ, UK
I
Isabelle Hering
Etude Hering, Nyon, 1260, Switzerland
Francesca Mangili
Francesca Mangili
IDSIA, usi-supsi
statisticsimprecise probabilityprognostics and health management