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


Journal

European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235

Informations de publication

Date de publication:
09 2023
Historique:
received: 29 04 2022
accepted: 13 09 2022
revised: 06 08 2022
pmc-release: 01 09 2024
medline: 5 9 2023
pubmed: 4 10 2022
entrez: 3 10 2022
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 36192438
doi: 10.1038/s41431-022-01196-6
pii: 10.1038/s41431-022-01196-6
pmc: PMC10474261
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1048-1056

Informations de copyright

© 2022. The Author(s), under exclusive licence to European Society of Human Genetics.

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Auteurs

Liis Leitsalu (L)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia. Liis.leitsalu@ut.ee.

Anu Reigo (A)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Marili Palover (M)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Tiit Nikopensius (T)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Kristi Läll (K)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Kristi Krebs (K)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Sulev Reisberg (S)

Institute of Computer Science, University of Tartu, Tartu, Estonia.
STACC, Tartu, Estonia.

Reedik Mägi (R)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Mart Kals (M)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.

Helene Alavere (H)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Margit Nõukas (M)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Anneli Kolk (A)

Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.

Ivi Normet (I)

Family Medicine Center of Medicum, Tallinn, Estonia.

Mari-Liis Tammesoo (ML)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Ene Käärik (E)

Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia.

Mairo Puusepp (M)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Kristjan Metsalu (K)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Annely Allik (A)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Current - Estonian Research Council, Tartu, Estonia.

Lili Milani (L)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.

Krista Fischer (K)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Institute of Mathematics and Statistics, University of Tartu, Tartu, Estonia.

Neeme Tõnisson (N)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Tartu University Hospital, Tartu, Estonia.

Andres Metspalu (A)

Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

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