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Balancing scientifi...
Balancing scientific interests and the rights of participants in designing a recall by genotype study
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- Mascalzoni, Deborah, 1973- (author)
- Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Biasiotto, Roberta (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Borsche, Max (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany
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- Brüggemann, Norbert (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany
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- De Grandi, Alessandro (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Goegele, Martin (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Frygner Holm, Sara (author)
- Uppsala universitet,Åsenlöf: Fysioterapi
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- Klein, Christine (author)
- Univ Lubeck, Inst Neurogenet, Lubeck, Germany
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- Kösters, Maria (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Staunton, Ciara (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy; Middlesex Univ, Sch Law, London, England
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- Pramstaller, Peter P. (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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- Krawczak, Michael (author)
- Univ Kiel, Inst Med Informat & Stat, Kiel, Germany
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- Hicks, Andrew A. (author)
- Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy
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(creator_code:org_t)
- 2021-05-13
- 2021
- English.
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In: European Journal of Human Genetics. - : Springer Nature. - 1018-4813 .- 1476-5438. ; 29:7, s. 1146-1157
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Medicinsk etik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Medical Ethics (hsv//eng)
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- ref (subject category)
- art (subject category)
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Mascalzoni, Debo ...
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Biasiotto, Rober ...
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Borsche, Max
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Brüggemann, Norb ...
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De Grandi, Aless ...
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Goegele, Martin
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Frygner Holm, Sa ...
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Klein, Christine
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Kösters, Maria
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Staunton, Ciara
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Pramstaller, Pet ...
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Krawczak, Michae ...
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Hicks, Andrew A.
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Medical Ethics
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European Journal ...
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Uppsala University