Managing clinically significant findings in research: The UK10K example

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Kaye, J.; Hurles, M.; Griffin, H.; Grewal, Jasote; Bobrow, M. et al.: Managing clinically significant findings in research: The UK10K example. In: European Journal of Human Genetics 22 (2014), Nr. 9, S. 1100-1104. DOI: https://doi.org/10.1038/ejhg.2013.290

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Sum total of downloads: 148




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Abstract: 
Recent advances in sequencing technology allow data on the human genome to be generated more quickly and in greater detail than ever before. Such detail includes findings that may be of significance to the health of the research participant involved. Although research studies generally do not feed back information on clinically significant findings (CSFs) to participants, this stance is increasingly being questioned. There may be difficulties and risks in feeding clinically significant information back to research participants, however, the UK10K consortium sought to address these by creating a detailed management pathway. This was not intended to create any obligation upon the researchers to feed back any CSFs they discovered. Instead, it provides a mechanism to ensure that any such findings can be passed on to the participant where appropriate. This paper describes this mechanism and the specific criteria, which must be fulfilled in order for a finding and participant to qualify for feedback. This mechanism could be used by future research consortia, and may also assist in the development of sound principles for dealing with CSFs. © 2014 Macmillan Publishers Limited All rights reserved.
License of this version: CC BY 3.0 Unported
Document Type: Article
Publishing status: publishedVersion
Issue Date: 2014
Appears in Collections:Philosophische Fakultät

distribution of downloads over the selected time period:

downloads by country:

pos. country downloads
total perc.
1 image of flag of Germany Germany 99 66.89%
2 image of flag of United States United States 21 14.19%
3 image of flag of China China 10 6.76%
4 image of flag of No geo information available No geo information available 3 2.03%
5 image of flag of Russian Federation Russian Federation 3 2.03%
6 image of flag of Vietnam Vietnam 2 1.35%
7 image of flag of United Kingdom United Kingdom 2 1.35%
8 image of flag of Ukraine Ukraine 1 0.68%
9 image of flag of Italy Italy 1 0.68%
10 image of flag of Croatia Croatia 1 0.68%
    other countries 5 3.38%

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