Shaikh Mutiullah, Ebrahimi Ali, Wiil Uffe Kock
SDU Health Informatics and Technology, The Maersk Mc-Kinney Moller Institute, University of Southern Denmark, Odense, Denmark.
Stud Health Technol Inform. 2025 Jun 26;328:302-307. doi: 10.3233/SHTI250724.
Advancements in personalized medicine require secure, transparent, and privacy-preserving genomic data management systems. This study proposes a novel hybrid blockchain-based genomic data model integrating Self-Sovereign Identity (SSI), Decentralized Identifiers (DIDs), Verifiable Credentials (VCs), and decentralized storage Interplanetary File System (IPFS) to enable secure, privacy-compliant, patient-controlled genomic data exchange. The model leverages Polygon Proof-of-Stake (PoS) blockchain by deploying a smart contract that enforces fully access control functions applied on 100 samples of synthetic genomic data, ensuring only authorized researchers with valid DIDs and VCs can retrieve genomic data. Later, we performed five tests to evaluate our model performance. Security evaluations confirmed 100% data integrity validation through SHA-256 hash validation on-chain, ensuring tamper-proof genomic data storage. Unauthorized access attempts resulted in zero successful breaches, demonstrating the robustness of SSI-based authentication by showing revoked access. Additionally, IPFS data availability testing confirmed reliable and decentralized data retrieval through the Content Identifier (CID) on-chain. The model's access revocation mechanism enabled real-time patient control over genomic data access, ensuring compliance with GDPR privacy regulations. The proposed model provides a scalable, secure, and privacy-compliant solution for genomic data sharing in precision medicine, empowering patients with full control over their genetic data while facilitating researchers to trustworthy, decentralized data useability for precision research.
个性化医疗的进步需要安全、透明且保护隐私的基因组数据管理系统。本研究提出了一种基于区块链的新型混合基因组数据模型，该模型集成了自我主权身份（SSI）、去中心化标识符（DID）、可验证凭证（VC）和去中心化存储星际文件系统（IPFS），以实现安全、符合隐私规定且由患者控制的基因组数据交换。该模型通过部署智能合约来利用Polygon权益证明（PoS）区块链，该智能合约对100个合成基因组数据样本执行全面的访问控制功能，确保只有拥有有效DID和VC的授权研究人员才能检索基因组数据。随后，我们进行了五项测试以评估模型性能。安全评估通过链上的SHA-256哈希验证确认了100%的数据完整性验证，确保了基因组数据存储的防篡改。未经授权的访问尝试导致零次成功突破，通过显示已撤销的访问证明了基于SSI的认证的稳健性。此外，IPFS数据可用性测试通过链上的内容标识符（CID）确认了可靠且去中心化的数据检索。该模型的访问撤销机制使患者能够实时控制基因组数据访问，确保符合GDPR隐私法规。所提出的模型为精准医疗中的基因组数据共享提供了一个可扩展、安全且符合隐私规定的解决方案，使患者能够完全控制自己的基因数据，同时便于研究人员进行值得信赖的、去中心化的数据使用以开展精准研究。
