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Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank

Abstract

The return of individual genomic results (ROR) to research participants is still in its early phase, and insight on how individuals respond to ROR is scarce. Studies contributing to the evidence base for best practices are crucial before these can be established. Here, we describe a ROR procedure conducted at a population-based biobank, followed by surveying the responses of almost 3000 participants to a range of results, and discuss lessons learned from the process, with the aim of facilitating large-scale expansion. Overall, participants perceived the information that they received with counseling as valuable, even when the reporting of high risks initially caused worry. The face-to-face delivery of results limited the number of participants who received results. Although the participants highly valued this type of communication, additional means of communication need to be considered to improve the feasibility of large-scale ROR. The feedback collected sheds light on the value judgements of the participants and on potential responses to the receipt of genetic risk information. Biobanks in other countries are planning or conducting similar projects, and the sharing of lessons learned may provide valuable insight and aid such endeavors.

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Fig. 1: The EstBB ROR workflow.
Fig. 2: Age and gender distribution of participants receiving ROR.
Fig. 3: Report sections considered to be valuable, difficult to understand, and scary as reported by participants shortly after ROR.
Fig. 4: Proportions of participants reporting positive (calm, relaxed, content) and uncomfortable feelings (worried, tense, upset) before and immediately after ROR and 6 months later.

Data availability

Data mentioned in the paper can be found within the published article and its supplementary files, and additional data generated or analysed during this study are available from the corresponding author upon reasonable request.

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Funding

This research was supported by the European Union through the European Regional Development Fund (project no. 2014-2020.4.01.15-0012 and SLTAT16148T/TK148) and by Personal Research Funding grants from the Estonian Research Council (PRG555, PRG1095, PRG184, PRG1197).

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Authors and Affiliations

Authors

Contributions

(CRediT statements). LL: Conceptualization, Formal analysis, Investigation, Writing - Original Draft, Visualization. AR: Methodology, Formal analysis, Investigation, Writing - Review & Editing, Visualization, Project administration. MP: Methodology, Investigation. TN: Methodology, Validation, Writing - Review & Editing. KL: Methodology. KK: Methodology. SR: Methodology. RM: Methodology. MK: Methodology. HA: Methodology, Investigation, Project administration. MN: Investigation, Writing - Review & Editing. AK: Investigation. IN: Investigation. MLT: Data Curation. EK: Formal analysis. MP: Methodology, Software. KM: Methodology, Software. AA: Methodology, Project administration. LM: Methodology, Writing - Review & Editing, Supervision, Funding acquisition. KF: Methodology, Formal analysis, Visualization, Writing - Review & Editing, Supervision, Funding acquisition. NT: Conceptualization, Methodology, Formal analysis, Investigation, Resources, Writing - Review & Editing, Supervision, Funding acquisition. AM: Conceptualization, Resources, Writing - Review & Editing, Supervision, Funding acquisition.

Corresponding author

Correspondence to Liis Leitsalu.

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Competing interests

The authors declare no competing interests.

Ethics approval and consent to participate

The ROR procedure, from registration to feedback collection, including the informed consent procedure, was approved by the ethics committee of the University of Tartu (no. 271/T-22). Informed consent was obtained from all participants as required by the REC. The biobank has been described previously [19] and more details about the biobank can be found at the biobank’s website https://genomics.ut.ee/en/content/estonian-biobank.

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Leitsalu, L., Reigo, A., Palover, M. et al. Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank. Eur J Hum Genet 31, 1048–1056 (2023). https://doi.org/10.1038/s41431-022-01196-6

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