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CC BY-NC-ND 4.0 · Yearb Med Inform 2022; 31(01): 262-272
DOI: 10.1055/s-0042-1742522
Section 11: Public Health and Epidemiology Informatics
Survey

Towards an Interoperable Ecosystem of Research Cohort and Real-world Data Catalogues Enabling Multi-center Studies

Morris Swertz   *
1   Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
,
Esther van Enckevort
1   Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
,
José Luis Oliveira
2   DETI/IEETA, University of Aveiro, Portugal
,
Isabel Fortier
3   Research Institute of the McGill University Health Center, Montreal, Canada
,
Julie Bergeron
3   Research Institute of the McGill University Health Center, Montreal, Canada
,
Nicolas H. Thurin
4   Univ. Bordeaux, INSERM CIC-P 1401, Bordeaux PharmacoEpi, Bordeaux, France
,
Eleanor Hyde
1   Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
,
Alexander Kellmann
1   Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
,
Romin Pahoueshnja
5   University of Utrecht, The Netherlands
,
Miriam Sturkenboom
6   Department of Datascience & Biostatistics, Julius Center, University Medical Center Utrecht, Utrecht, The Netherlands
,
Marianne Cunnington
7   GlaxoSmithkline, Stevenage, Herts, SG1 2NY, UK
,
Anne-Marie Nybo Andersen
8   University of Copenhagen, Copenhagen, Denmark
,
Yannick Marcon
9   Epigeny, France
,
Gonçalo Gonçalves
10   Human-Centered Computing and Information Science, INESC TEC, Portugal
,
Rosa Gini   *
11   ARS Toscana, Florence, Italy
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Summary

Objectives: Existing individual-level human data cover large populations on many dimensions such as lifestyle, demography, laboratory measures, clinical parameters, etc. Recent years have seen large investments in data catalogues to FAIRify data descriptions to capitalise on this great promise, i.e. make catalogue contents more Findable, Accessible, Interoperable and Reusable. However, their valuable diversity also created heterogeneity, which poses challenges to optimally exploit their richness.

Methods: In this opinion review, we analyse catalogues for human subject research ranging from cohort studies to surveillance, administrative and healthcare records.

Results: We observe that while these catalogues are heterogeneous, have various scopes, and use different terminologies, still the underlying concepts seem potentially harmonizable. We propose a unified framework to enable catalogue data sharing, with catalogues of multi-center cohorts nested as a special case in catalogues of real-world data sources. Moreover, we list recommendations to create an integrated community of metadata catalogues and an open catalogue ecosystem to sustain these efforts and maximise impact.

Conclusions: We propose to embrace the autonomy of motivated catalogue teams and invest in their collaboration via minimal standardisation efforts such as clear data licensing, persistent identifiers for linking same records between catalogues, minimal metadata ‘common data elements’ using shared ontologies, symmetric architectures for data sharing (push/pull) with clear provenance tracks to process updates and acknowledge original contributors. And most importantly, we encourage the creation of environments for collaboration and resource sharing between catalogue developers, building on international networks such as OpenAIRE and research data alliance, as well as domain specific ESFRIs such as BBMRI and ELIXIR.

Keywords

Catalogs as topic - data collection - metadata

* Corresponding authors


Supplementary Material



Publication History

Article published online:
04 December 2022

© 2022. IMIA and Thieme. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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