Rethinking scale in AI-driven genomic medicine – The role of small biobanks

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Authors: Laura Grech, Nikolai Paul Pace
Cited by: 1
References: 33

Abstract

Artificial intelligence is rapidly advancing genomic medicine, but its clinical trustworthiness cannot be secured by larger datasets alone. This perspective argues that small biobanks, including national, regional, hospital-linked and disease-focused collections provide essential stress tests for AI-driven genomic medicine because they expose failures in population calibration, rare-variant interpretation, phenotype realism, privacy protection, and governance. Rather than serving primarily as substrates for training general-purpose models, small biobanks are most valuable as environments for external validation, local calibration, interpretability, federated analysis, and accountable deployment. Their local representativeness, clinical linkage, and governance structures can help determine whether AI predictions remain valid and clinically useful outside the large datasets on which they were developed. Trustworthy AI-powered genomic medicine will therefore depend not only on larger models and larger datasets, but also on smaller, well-governed biobanks that force those models to prove their validity in real-world settings.

Fields of Study & Subjects

Genomics and Rare Diseases Artificial Intelligence in Healthcare and Education Ethics in Clinical Research

Publication details

Journal / source
Frontiers in Genetics
Publisher
Frontiers Media SA
Volume
17
Pages
1903325–1903325
Publication date
29 June 2026
Language
EN