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

Beyene, Mikael ORCID iD icon 1; Toussaint, Philipp A. ORCID iD icon 1; Thiebes, Scott ORCID iD icon 1; Schlesner, Matthias; Brors, Benedikt; Sunyaev, Ali 1
1 Fakultät für Wirtschaftswissenschaften (WIWI), Karlsruher Institut für Technologie (KIT)

Abstract (englisch):

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.

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.

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.
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Verlagsausgabe §
DOI: 10.5445/IR/1000146630
Veröffentlicht am 18.07.2022
DOI: 10.1093/jamia/ocac077
Zitationen: 3
Web of Science
Zitationen: 1
Zitationen: 4
Cover der Publikation
Zugehörige Institution(en) am KIT Fakultät für Wirtschaftswissenschaften (WIWI)
Publikationstyp Zeitschriftenaufsatz
Publikationsjahr 2022
Sprache Englisch
Identifikator ISSN: 1067-5027, 1527-974X
KITopen-ID: 1000146630
Erschienen in Journal of the American Medical Informatics Association
Verlag Oxford University Press (OUP)
Band 29
Heft 8
Seiten 1433–1444
Vorab online veröffentlicht am 20.05.2022
Schlagwörter distributed ledger technology, Blockchain, genomics, literature review, thematic analysis
Nachgewiesen in Web of Science
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