Balancing scientific interests and the rights of participants in designing a recall by genotype study

Mascalzoni, Deborah ORCID logoORCID: https://orcid.org/0000-0003-4156-1464, Biasiotto, Roberta, Borsche, Max ORCID logoORCID: https://orcid.org/0000-0002-9651-5986, Brüggemann, Norbert, De Grandi, Alessandro, Goegele, Martin, Frygner-Holm, Sara ORCID logoORCID: https://orcid.org/0000-0002-0609-5683, Klein, Christine, Kösters, Maria, Staunton, Ciara ORCID logoORCID: https://orcid.org/0000-0002-3185-440X, Pramstaller, Peter P. ORCID logoORCID: https://orcid.org/0000-0002-9831-8302, Krawczak, Michael and Hicks, Andrew A. ORCID logoORCID: https://orcid.org/0000-0001-6320-0411 (2021) Balancing scientific interests and the rights of participants in designing a recall by genotype study. European Journal of Human Genetics, 29 (7) . pp. 1146-1157. ISSN 1018-4813 [Article] (doi:10.1038/s41431-021-00860-7)

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Abstract

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.

Item Type: Article
Research Areas: A. > School of Law
Item ID: 33602
Notes on copyright: © The Author(s) 2021. This article is published with open access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.
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Depositing User: Jisc Publications Router
Date Deposited: 26 Jul 2021 08:38
Last Modified: 08 Nov 2022 18:06
URI: https://eprints.mdx.ac.uk/id/eprint/33602

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