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WFRF:(Goegele Martin)
 

Search: WFRF:(Goegele Martin) > (2021) > Balancing scientifi...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005020naa a2200493 4500
001oai:DiVA.org:uu-454181
003SwePub
008210927s2021 | |||||||||||000 ||eng|
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4541812 URI
0247 a https://doi.org/10.1038/s41431-021-00860-72 DOI
040 a (SwePub)uu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Mascalzoni, Deborah,d 1973-u Uppsala universitet,Centrum för forsknings- och bioetik,Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut0 (Swepub:uu)debma696
2451 0a Balancing scientific interests and the rights of participants in designing a recall by genotype study
264 c 2021-05-13
264 1b Springer Nature,c 2021
338 a electronic2 rdacarrier
520 a 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.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Hälsovetenskapx Medicinsk etik0 (SwePub)303102 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Health Sciencesx Medical Ethics0 (SwePub)303102 hsv//eng
7001 a Biasiotto, Robertau Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7001 a Borsche, Maxu Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany4 aut
7001 a Brüggemann, Norbertu Univ Lubeck, Inst Neurogenet, Lubeck, Germany; Univ Med Ctr Schleswig Holstein, Dept Neurol, Lubeck, Germany4 aut
7001 a De Grandi, Alessandrou Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7001 a Goegele, Martinu Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7001 a Frygner Holm, Sarau Uppsala universitet,Åsenlöf: Fysioterapi4 aut0 (Swepub:uu)sarho948
7001 a Klein, Christineu Univ Lubeck, Inst Neurogenet, Lubeck, Germany4 aut
7001 a Kösters, Mariau Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7001 a Staunton, Ciarau Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy; Middlesex Univ, Sch Law, London, England4 aut
7001 a Pramstaller, Peter P.u Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7001 a Krawczak, Michaelu Univ Kiel, Inst Med Informat & Stat, Kiel, Germany4 aut
7001 a Hicks, Andrew A.u Univ Lubeck, Affiliated Inst, Inst Biomed, Eurac Res, Bolzano, Italy4 aut
7102 a Uppsala universitetb Centrum för forsknings- och bioetik4 org
7730 t European Journal of Human Geneticsd : Springer Natureg 29:7, s. 1146-1157q 29:7<1146-1157x 1018-4813x 1476-5438
8564 u https://doi.org/10.1038/s41431-021-00860-7y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1597653/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u https://www.nature.com/articles/s41431-021-00860-7.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-454181
8564 8u https://doi.org/10.1038/s41431-021-00860-7

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