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Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

G. de Wert, W. Dondorp, A. Clarke, EMC. Dequeker, C. Cordier, Z. Deans, CG. van El, F. Fellmann, R. Hastings, S. Hentze, H. Howard, M. Macek, A. Mendes, C. Patch, E. Rial-Sebbag, V. Stefansdottir, MC. Cornel, F. Forzano, European Society of Human Genetics

. 2021 ; 29 (3) : 365-377. [pub] 20201122

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22012512
E-zdroje Online Plný text

NLK Free Medical Journals od 2009
PubMed Central od 2009 do Před 1 rokem
Europe PubMed Central od 2009 do Před 1 rokem
ProQuest Central od 2000-01-01 do Před 1 rokem
Open Access Digital Library od 1998-01-01
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem

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.

Biomedical Quality Assurance Research Unit Department of Public Health and Primary Care University of Leuven Leuven Belgium

CEQAS GenQA John Radcliffe Hospital Oxford University Hospitals NHS Foundation Trust Oxford UK

Clinical Genetics Department Guy's and St Thomas' NHS Foundation Trust London UK

Département de génétique SYNLAB Chemin d'Entre Bois 21 1018 Lausanne Switzerland

Department of Biology and Medical Genetics Charles University and Motol University Hospital Prague Czech Republic

Department of Genetics and Molecular Medicine Landspitali University Hospital Reykjavik Iceland

Department of Health Ethics and Society CAPHRI Care and Public Health Research Institute and Research School GROW for Oncology and Developmental Biology Maastricht University Maastricht The Netherlands

Division of Industrial Biotechnology Department of Biology and Biological Engineering Chalmers University of Technology Gothenburg 412 96 Sweden

Genomics England Queen Mary University of London London UK

Institute of Medical Genetics Division of Cancer and Genetics School of Medicine Cardiff University Cardiff UK

Laboratoire d'Épidémiologie et de Santé Publique UMR 1027 INSERM Université Paul Sabatier Toulouse France

Medical Ethics Lund Universitet Lund SE 221 00 Sweden

Praxis für Humangenetik Mannheim Germany

Section Community Genetics Department of Clinical Genetics and Amsterdam Public Health research institute Amsterdam UMC Vrije Universiteit Amsterdam Amsterdam The Netherlands

Society and Ethics Research Group Connecting Science Wellcome Genome Campus Cambridge CB10 1SA UK

The ColLaboratory University of Lausanne Lausanne Switzerland

UK National External Quality Assessment Service for Molecular Genetics Genomics Quality Assessment Department of Laboratory Medicine Royal Infirmary of Edinburgh Edinburgh UK

UnIGENe and CGPP Centre for Predictive and Preventive Genetics IBMC Institute for Molecular and Cell Biology i3S Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal

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