| Contributors: |
1Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, and Research School GROW for Oncology & Developmental Biology, Maastricht University, Maastricht, The Netherlands. g.dewert@maastrichtuniversity.nl. 2Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, and Research School GROW for Oncology & Developmental Biology, Maastricht University, Maastricht, The Netherlands. 3Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK. 4Biomedical Quality Assurance Research Unit, Department of Public Health and Primary Care, University of Leuven, Leuven, Belgium. 5Département de génétique, SYNLAB, Chemin d'Entre-Bois 21, 1018, Lausanne, Switzerland. 6UK National External Quality Assessment Service for Molecular Genetics/Genomics Quality Assessment, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK. 7Section Community Genetics, Department of Clinical Genetics and Amsterdam Public Health research institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands. 8The ColLaboratory, University of Lausanne, Lausanne, Switzerland. 9CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. 10Praxis für Humangenetik, Mannheim, Germany. 11Medical Ethics, Lund Universitet, Lund, SE-221 00, Sweden. 12Division of Industrial Biotechnology, Department of Biology and Biological Engineering, Chalmers University of Technology, Gothenburg, 412 96, Sweden. 13Department of Biology and Medical Genetics, Charles University and Motol University Hospital, Prague, Czech Republic. 14UnIGENe 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. 15Genomics England, Queen Mary University of London, London, UK. 16Society and Ethics Research Group, Connecting Science, Wellcome Genome Campus, Cambridge, CB10 1SA, UK. 17Laboratoire d'Épidémiologie et de Santé Publique, UMR 1027 INSERM, Université Paul-Sabatier, Toulouse, France. 18Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 19Clinical Genetics Department, Guy's & St Thomas' NHS Foundation Trust, London, UK. |
| Description: |
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Download ; 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. ; Netherlands Organization for Health Research and Development |