Evidence map›Paper›PMID 35595301›Full record

ArticleJournal of the American Medical Informatics Association : JAMIA2022

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

Abstract readScoping Review
In one paragraph

Article in Journal of the American Medical Informatics Association : JAMIA, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors.

Mikael BeyeneDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.ORCID 0000-0002-7651-4767
Philipp A ToussaintDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.ORCID 0000-0002-1617-3307
Scott ThiebesDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.ORCID 0000-0002-6917-1831
Matthias SchlesnerBiomedical Informatics, Data Mining and Data Analytics, Faculty of Applied Computer Science and Medical Faculty, University of Augsburg, Augsburg, Germany.ORCID 0000-0002-5896-4086
Benedikt BrorsDivision of Applied Bioinformatics, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-5940-3101
Ali SunyaevDepartment of Economics and Management, Karlsruhe Institute of Technology, Karlsruhe, Germany.ORCID 0000-0002-4353-8519

Funding

Helmholtz AssociationHelmholtz Association under the joint research school "HIDSS4Health-Helmholtz Information and Data Science School for Health
6 · The paper itself

Abstract

objectiveRising 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

methodsWe 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.

resultsOur 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.

conclusionWhile 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.

Indexed as

BlockchainComputer SecurityGenomicsHumansPrivacyTechnologyBlockchaindistributed ledger technologygenomicsliterature reviewthematic analysis

Identifiers

PMID35595301
PMCPMC9277639

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.