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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.
Human Genetics
|August 31, 2025
Summary
A new blockchain framework, BRCA-CN, has been developed for accurate BRCA gene variant interpretation in Chinese populations. This system enhances data sharing and regulatory compliance for genomic medicine.
Area of Science:
- Genomic Medicine
- Bioinformatics
- Blockchain Technology
Background:
- Fragmented genetic variant databases hinder clinical evaluation in Chinese populations.
- High-quality, regulatory-grade databases are essential for precise genetic variant interpretation.
Purpose of the Study:
- To develop a consortium blockchain-based governance framework (BRCA-CN) for BRCA gene variant interpretation in Chinese populations.
- To address challenges in data sharing, standardization, and regulatory oversight in population-specific genomic databases.
Main Methods:
- Compiled 66,485 variants from 6,031 samples across six Chinese laboratories.
- Utilized a 15-expert panel for systematic variant curation based on ACMG/AMP guidelines.
- Implemented smart contracts for data integrity and accountability within a blockchain framework.
Main Results:
- Established a comprehensive database of 950 unique BRCA variants (365 BRCA1, 585 BRCA2).
- Achieved consensus reviews for 607 sites, with 462 definitive interpretations.
- Demonstrated 83.6% concordance with ClinVar, validated by AI tools (PrimateAI, REVEL, EVE).
Conclusions:
- BRCA-CN enables secure, compliant cross-institutional collaboration for genomic data.
- The blockchain framework provides a robust foundation for clinical decision-making in Chinese populations.
- BRCA-CN offers a replicable model for developing population-specific genomic databases.
