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Opportunistic genom...
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
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- de Wert, Guido (author)
- Universiteit Maastricht,Maastricht University
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- Dondorp, Wybo (author)
- Universiteit Maastricht,Maastricht University
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- Clarke, Angus (author)
- Cardiff University
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- Dequeker, Elisabeth M. C. (author)
- Katholieke Universiteit Leuven,Catholic University of Leuven,Synlab Services GmbH,Charles University in Prague,University Hospital Motol,University of Lausanne
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Cordier, Christophe (author)
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- Deans, Zandra (author)
- Royal Infirmary of Edinburgh
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- van El, Carla G. (author)
- Vrije Universiteit Amsterdam (VU),Vrije Universiteit Amsterdam
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- Fellmann, Florence (author)
- Université de Lausanne,University of Lausanne
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- Hastings, Ros (author)
- John Radcliffe Hospital,Oxford University Hospital
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- Hentze, Sabine (author)
- Synlab Services LLC
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- Howard, Heidi, 1974 (author)
- Chalmers University of Technology,Lund University,Lunds universitet,Medicinsk etik,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Medical Ethics,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Macek, Milan (author)
- Univerzita Karlova,Charles University
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- Mendes, Alvaro (author)
- Universidade do Porto,University of Porto,Institute for Molecular and Cell Biology
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- Patch, Chris (author)
- Wellcome Connecting Science WCS,Queen Mary University of London,Wellcome Trust,Queen Mary University
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- Rial-Sebbag, Emmanuelle (author)
- Universite Paul Sabatier Toulouse III,Paul Sabatier University,Université Paul Sabatier
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- Stefansdottir, Vigdis (author)
- Landspitali University Hospital,National University Hospital of Iceland
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- Cornel, Martina C. (author)
- Université de Lausanne,University of Lausanne
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- Forzano, Francesca (author)
- Guy's and St Thomas' NHS Foundation Trust
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(creator_code:org_t)
- 2020-11-22
- 2021
- English.
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In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 29:3, s. 365-377
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Abstract
Subject headings
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- If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England). They argue that the opportunity should be used to routinely and systematically look for secondary findings-so-called opportunistic screening. From a normative perspective, the distinguishing characteristic of screening is not so much its context (whether public health or health care), but the lack of an indication for having this specific test or investigation in those to whom screening is offered. Screening entails a more precarious benefits-to-risks balance. The ESHG continues to recommend a cautious approach to opportunistic screening. Proportionality and autonomy must be guaranteed, and in collectively funded health-care systems the potential benefits must be balanced against health care expenditures. With regard to genome sequencing in pediatrics, ESHG argues that it is premature to look for later-onset conditions in children. Counseling should be offered and informed consent is and should be a central ethical norm. Depending on developing evidence on penetrance, actionability, and available resources, OGS pilots may be justified to generate data for a future, informed, comparative analysis of OGS and its main alternatives, such as cascade testing.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Health Care Service and Management, Health Policy and Services and Health Economy (hsv//eng)
- HUMANIORA -- Filosofi, etik och religion -- Etik (hsv//swe)
- HUMANITIES -- Philosophy, Ethics and Religion -- Ethics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Medicinsk etik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Medical Ethics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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de Wert, Guido
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Dondorp, Wybo
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Clarke, Angus
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Dequeker, Elisab ...
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Cordier, Christo ...
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Deans, Zandra
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van El, Carla G.
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Fellmann, Floren ...
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Hastings, Ros
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Hentze, Sabine
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Howard, Heidi, 1 ...
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Macek, Milan
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Mendes, Alvaro
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Patch, Chris
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Rial-Sebbag, Emm ...
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Stefansdottir, V ...
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Cornel, Martina ...
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Forzano, Frances ...
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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 Health Sciences
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and Health Care Serv ...
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- HUMANITIES
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HUMANITIES
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and Philosophy Ethic ...
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and Ethics
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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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- 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
- Articles in the publication
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European Journal ...
- By the university
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Chalmers University of Technology
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Lund University