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BRCA-CN: a blockchain-based framework to support public variant databases sharing in multi-center community for
Shoufang Qu1, Rongzhi Liu2, Shisen Li3
1Department of in Vitro Diagnostic Reagent, National Institutes for Food and Drug Control (NIFDC), No.2 Tiantanxili, Dongcheng District, Beijing, 10050, China.
None:
High-quality, regulatory-grade databases for precise genetic variant interpretation are critically needed for Chinese populations, where existing fragmented databases impede clinical effectiveness evaluations. We developed BRCA-CN, a consortium blockchain-based governance framework specifically designed for BRCA gene variant interpretation in Chinese populations. Our framework compiled 66,485 variants from 6,031 samples across six Chinese laboratories. A 15-expert panel conducted systematic variant curation using unified interpretation standards based on ACMG/AMP guidelines. Smart contracts ensured data integrity and accountability throughout the consensus process. After deduplication, we established a comprehensive database of 950 unique variants (BRCA1: 365, BRCA2: 585), completing consensus reviews for 607 sites with 462 achieving definitive interpretations. Comparison with ClinVar revealed 83.6% concordance, with AI validation (PrimateAI, REVEL, EVE) confirming high interpretation accuracy. The blockchain framework successfully enabled secure cross-institutional collaboration while maintaining data sovereignty and regulatory compliance. BRCA-CN demonstrates the transformative potential of blockchain technology in genomic medicine, addressing critical challenges in data sharing, standardization, and regulatory oversight. This framework provides a robust foundation for clinical decision-making and establishes a replicable model for population-specific genomic databases. Access to the BRCA-CN portal, user guides, and test data is provided in the supplementary materials, available at: https://oxygen-chamber.mgi-tech.com/sdb2.

