The successful implementation of pharmacogenetics (PGx) into clinical practice requires patient genomic data to be shared between stakeholders in multiple settings. This creates a number of barriers to widespread adoption of PGx, including privacy concerns related to the storage and movement of identifiable genomic data. Informatic solutions that support secure and equitable data access for genomic data are therefore important to PGx. Here we propose a methodology that uses smart contracts implemented on a blockchain-based framework, PGxChain, to address this issue. The design requirements for PGxChain were identified through a systematic literature review, identifying technical challenges and barriers impeding the clinical implementation of pharmacogenomics. These requirements included security and privacy, accessibility, interoperability, traceability and legal compliance. A proof-of-concept implementation based on Ethereum was then developed that met the design requirements. PGxChain’s performance was examined using Hyperledger Caliper for latency, throughput, and transaction success rate. The findings clearly indicate that blockchain technology offers considerable potential to advance pharmacogenetic data sharing, particularly with regard to PGx data security and privacy, large-scale accessibility of PGx data, PGx data interoperability between multiple health care providers and compliance with data-sharing laws and regulations.

将药物遗传学 (PGx) 成功实施到临床实践中需要在多个环境中的利益相关者之间共享患者基因组数据。这对 PGx 的广泛采用造成了许多障碍，包括与可识别基因组数据的存储和移动相关的隐私问题。因此，支持基因组数据的安全和公平数据访问的信息解决方案对 PGx 很重要。在这里，我们提出了一种使用在基于区块链的框架 PGxChain 上实施的智能合约来解决这个问题的方法。PGxChain 的设计要求是通过系统的文献回顾确定的，确定了阻碍药物基因组学临床实施的技术挑战和障碍。这些要求包括安全和隐私、可访问性、互操作性、可追溯性和法律合规性。然后开发了一个基于以太坊的概念验证实现，满足了设计要求。PGxChain 的性能已使用 Hyperledger Caliper 检查延迟、吞吐量和交易成功率。研究结果清楚地表明，区块链技术为推进药物遗传学数据共享提供了巨大潜力，特别是在 PGx 数据安全和隐私、PGx 数据的大规模可访问性、多个医疗保健提供者之间的 PG​​x 数据互操作性以及遵守数据共享法律和规定。