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

Mikael Beyene; Philipp A Toussaint; Scott Thiebes; Matthias Schlesner; Benedikt Brors; Ali Sunyaev

doi:10.1093/jamia/ocac077

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

J Am Med Inform Assoc. 2022 Jul 12;29(8):1433-1444. doi: 10.1093/jamia/ocac077.

Authors

Mikael Beyene^{1

2}, Philipp A Toussaint^{1

2}, Scott Thiebes¹, Matthias Schlesner^{3

4}, Benedikt Brors^{5

6}, Ali Sunyaev¹

Affiliations

¹ Department of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.
² HIDSS4Health-Helmholtz Information and Data Science School for Health, Karlsruhe/Heidelberg, Germany.
³ Biomedical Informatics, Data Mining and Data Analytics, Faculty of Applied Computer Science and Medical Faculty, University of Augsburg, Augsburg, Germany.
⁴ Bioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁵ Division of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁶ Translational Oncology, National Center for Tumor Diseases, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Abstract

Objective: Rising interests in distributed ledger technology (DLT) and genomics have sparked various interdisciplinary research streams with a proliferating number of scattered publications investigating the application of DLT in genomics. This review aims to uncover the current state of research on DLT in genomics, in terms of focal research themes and directions for future research.

Materials and methods: We conducted a scoping review and thematic analysis. To identify the 60 relevant papers, we queried Scopus, Web of Science, PubMed, ACM Digital Library, IEEE Xplore, arXiv, and BiorXiv.

Results: Our analysis resulted in 7 focal themes on DLT in genomics discussed in literature, namely: (1) Data economy and sharing; (2) Data management; (3) Data protection; (4) Data storage; (5) Decentralized data analysis; (6) Proof of useful work; and (7) Ethical, legal, and social implications.

Discussion: Based on the identified themes, we present 7 future research directions: (1) Investigate opportunities for the application of DLT concepts other than Blockchain; (2) Explore people's attitudes and behaviors regarding the commodification of genetic data through DLT-based genetic data markets; (3) Examine opportunities for joint consent management via DLT; (4) Investigate and evaluate data storage models appropriate for DLT; (5) Research the regulation-compliant use of DLT in healthcare information systems; (6) Investigate alternative consensus mechanisms based on Proof of Useful Work; and (7) Explore DLT-enabled approaches for the protection of genetic data ensuring user privacy.

Conclusion: While research on DLT in genomics is currently growing, there are many unresolved problems. This literature review outlines extant research and provides future directions for researchers and practitioners.

Keywords: Blockchain; distributed ledger technology; genomics; literature review; thematic analysis.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Blockchain*
Computer Security
Genomics
Humans
Privacy
Technology

Abstract

Publication types

MeSH terms

Grants and funding