Blockchain’s potential to address issues in genomics research and how it is being used today

Abstract

Advancements in technology have greatly decreased the costs of genome sequencing and expedited the entire sequencing process. As a result, there has been a significant increase in the volume of genomic data. Although this is useful for genomics research, there are two major concerns with this increase in data. First, the greater volume of genomic data requires a substantial amount of computational resources to process and store this data. While cloud services can seem like an effective solution to process and store this data, cloud services aggregate their information in one data center which results in the risk of a single point of failure. With the increase in genomic data, there is also an increase in privacy concerns because genomic data contains personal and sensitive information. People are not comfortable with large companies that store genomic data and people do not want this data shared with the public. Blockchain is a network that can utilize numerous computers to process data and store multiple copies of the database to eliminate the risk of a single point of failure. The blockchain is also a decentralized network which means that it is not regulated by a third party. This allows the data contributors to have full ownership of their genomic data and can decide who can access it. Today, there are several companies that have realized the advantages of blockchain and adopted this technology to store genomic data and give data contributors full control over this data.

A scoping review of distributed ledger technology in genomics: thematic analysis and directions for future research

“…Due to its decentralized nature, DLT can inherently prevent single points of failure by distributing data across multiple nodes. 15 , 27 For example, if a centralized biobank loses power it’s data cannot be accessed, so the biobank has a single point of failure. DLT enabled platforms guarantee a more stable information system, with more reliable data availability and sharing, provided the data is stored on-ledger.…”

“… 23 , 30 , 49 Aspects include data integrity, 31 , 59 data immutability, 9 , 60 and version history. 15 These aspects allow DLT to ensure data security for genetic data by storing the information on the ledger, which cannot be altered post hoc. Additionally, Dwarna, a DLT system for biobanking introduced by Mamo et al, utilizes pseudonymization and separation of information on-ledger and off-ledger to ensure data security (on- and off-ledger designate storage models used within DLT applications; cf.…”

“…By contrast, on-ledger data storage (or on-chain storage) characterizes use cases that store application data within the ledger, improving durability and the possibility of having secure data storage. 15 , 52 However, a negative factor mentioned is the missing ability to correct errors caused by the data-integrity property (ie, because no transaction can be deleted from the ledger, erroneous entries must also stay included). 11 …”

“…A potential benefit of DLT in genomics discussed in the literature is user empowerment . 15 , 21 , 34 DLT allows self-governance of users’ genetic data. 11 , 39 Further, DLT gives users options for consent management.…”

“…The majority of reviews discuss the topic of DLT in genomics only marginally in the broader context of healthcare or the life sciences. Recently, a few reviews have also directly addressed the application of DLT in genomics, 10 , 15 , 16 which indicates a growing research interest in the topic. Yet there is a lack of a comprehensive overview or a discussion of future research directions.…”