JMIR Publications

ABSTRACT

Background:

In clinical genomics sharing rare genetic disease information among genetic databases and laboratories is essential to determine the pathogenic significance of variants to enable the diagnosis of rare genetic diseases. Significant concerns around data governance and security have reduced this sharing in practice. Blockchain could provide a secure method for sharing genomic data between involved parties that overcome some of these issues.

Objective:

This study aims to contribute to the growing knowledge of blockchain technology’s potential role in supporting the sharing of clinical genomic data by describing a blockchain-based dynamic consent model to support clinical genomic data sharing and provide a proof-of-concept implementation, called ConsentChain, for the model to explore its performance.

Methods:

The ConsentChain requirements were captured from a patient forum to identify security and consent concerns. The ConsentChain was developed on the Ethereum platform, in which smart contracts were used to model the actions of patients, who may provide or withdraw consent to share their data; the data creator, who collects and stores patient data; and the data requester, who needs to query and access the patient data. A detailed analysis was undertaken of the ConsentChain performance as a function of the number of transactions processed by the system.

Results:

We describe ConsentChain, a blockchain-based system that provides a web portal interface to support clinical genomic sharing. ConsentChain allows patients to grant or withdraw data requestor access and allows data requestors to query and submit access to data stored in a secure off-chain database. We also developed an ontology model to represent patient consent elements into machine-readable codes to automate consent and data access processes.

Conclusions:

Blockchains and smart contracts can provide an efficient and scalable mechanism to support dynamic consent functionality and do address some of the barriers inhibiting genomic data sharing. However, they are not the complete answer and a number of issues still need to be addressed before such systems could be deployed in practice, particularly related to verifying user credentials.