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Balancing scientific interests and the rights of participants in designing a recall by genotype study
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics. Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy.ORCID iD: 0000-0003-4156-1464
Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy.ORCID iD: 0000-0002-8845-9670
Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany.ORCID iD: 0000-0002-9651-5986
Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany.
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2021 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 29, no 7, p. 1146-1157Article in journal (Refereed) Published
Abstract [en]

Recall by genotype (RbG) studies aim to better understand the phenotypes that correspond to genetic variants of interest, by recruiting carriers of such variants for further phenotyping. RbG approaches pose major ethical and legal challenges related to the disclosure of possibly unwanted genetic information. The Cooperative Health Research in South Tyrol (CHRIS) study is a longitudinal cohort study based in South Tyrol, Italy. Demand has grown for CHRIS study participants to be enrolled in RbG studies, thus making the design of a suitable ethical framework a pressing need. We here report upon the design of a pilot RbG study conducted with CHRIS study participants. By reviewing the literature and by consulting relevant stakeholders (CHRIS participants, clinical geneticists, ethics board, GPs), we identified key ethical issues in RbG approaches (e.g. complexity of the context, communication of genetic results, measures to further protect participants). The design of the pilot was based on a feasibility assessment, the selection of a suitable test case within the ProtectMove Research Unit on reduced penetrance of hereditary movement disorders, and the development of appropriate recruitment and communication strategies. An empirical study was embedded in the pilot study with the aim of understanding participants' views on RbG. Our experience with the pilot study in CHRIS allowed us to contribute to the development of best practices and policies for RbG studies by drawing recommendations: addressing the possibility of RbG in the original consent, implementing tailored communication strategies, engaging stakeholders, designing embedded empirical studies, and sharing research experiences and methodology.

Place, publisher, year, edition, pages
Springer Nature, 2021. Vol. 29, no 7, p. 1146-1157
National Category
Medical Genetics and Genomics Medical Ethics
Identifiers
URN: urn:nbn:se:uu:diva-454181DOI: 10.1038/s41431-021-00860-7ISI: 000650059300001PubMedID: 33981014OAI: oai:DiVA.org:uu-454181DiVA, id: diva2:1597653
Funder
NordForsk, 81105German Research Foundation (DFG), FOR2488Available from: 2021-09-27 Created: 2021-09-27 Last updated: 2025-02-10Bibliographically approved

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Mascalzoni, DeborahFrygner Holm, Sara

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