Realizing the potential of blockchain technologies in genomics

Abstract

Genomics data introduce a substantial computational burden as well as data privacy and ownership issues. Data sets generated by high-throughput sequencing platforms require immense amounts of computational resources to align to reference genomes and to call and annotate genomic variants. This problem is even more pronounced if reanalysis is needed for new versions of reference genomes, which may impose high loads to existing computational infrastructures. Additionally, after the compute-intensive analyses are completed, the results are either kept in centralized repositories with access control, or distributed among stakeholders using standard file transfer protocols. This imposes two main problems: (1) Centralized servers become gatekeepers of the data, essentially acting as an unnecessary mediator between the actual data owners and data users; and (2) servers may create single points of failure both in terms of service availability and data privacy. Therefore, there is a need for secure and decentralized platforms for data distribution with user-level data governance. A new technology, blockchain, may help ameliorate some of these problems. In broad terms, the blockchain technology enables decentralized, immutable, incorruptible public ledgers. In this Perspective, we aim to introduce current developments toward using blockchain to address several problems in omics, and to provide an outlook of possible future implications of the blockchain technology to life sciences.

Beyond Data Markets: Opportunities and Challenges for Distributed Ledger Technology in Genomics

“…Employing DLT within genomics promises to address many of the aforementioned ethical, legal, social challenges [4,6]. However, since the application of DLT in genomics is still in its infancy, DLT's diffusion within the community is currently to a large degree driven by a small but rapidly increasing number of young businesses.…”

“…Recently, DLT has also caught the interest of practitioners and researchers within the field of genomics [4][5][6]. Thereby, the diffusion of DLT in genomics is currently mainly driven by a small but rapidly increasing number of businesses such as Nebula Genomics, EncrypGen, or LunaDNA (see section 2.2 for a more detailed overview of DLT genomics businesses).…”

“…Researchers within the field of genomics and associated disciplines have only recently begun to investigate the full potential of DLT for the genomics research community and other relevant stakeholders in genomics (e.g., genome data donors, medical professionals, pharma industry) [4,6]. Due to the novelty of DLT for the genomics community, we still lack a profound understanding of what specific opportunities the application of DLT can bring forth for genomics, beyond the mere creation of genome data markets.…”

Applications of Blockchain Technology for Data-Sharing in Oncology: Results from a Systematic Literature Review

“…Among the primary studies, there are several prototypes that are justifying advantages of employing BCT in oncology. The growing body of research work [35][36][37][38][39] focusing on employing blockchain in healthcare or in the pharmaceutical supply chain in general, not oncologyspecific, was out of the scope of this paper. Some of these approaches to build blockchain-based EHR or supply chain system can be applied in oncology as well.…”

ARBoR: An Identity and Security Solution for Clinical Reporting

“…Although it has similarities to a "blockchain", used for example by cryptocurrencies, ARBoR is not a true blockchain as it lacks a decentralized consensus mechanism [10-13] (see discussion). Though these designs are more feature-rich than what we have currently implemented for ARBoR, such blockchain technologies may have broad applicability in the field of genomics [14] and recently, tools like MedRec [15,16] have been implemented to track medical records using blockchain technology. ARBoR instead, balances simplicity and precise tracking to singularly solve the report authenticity problem.…”