Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
Journal article, 2021
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.
Author
Guido de Wert
Maastricht University
Wybo Dondorp
Maastricht University
Angus Clarke
Cardiff University
Elisabeth M. C. Dequeker
KU Leuven
Christophe Cordier
Synlab Academy
Zandra Deans
NHS Foundation Trust
Carla G. van El
Vrije Universiteit Amsterdam
Florence Fellmann
University of Lausanne
Ros Hastings
John Radcliffe Hospital
Sabine Hentze
Zentrum für Humangenetik (ZHMA)
Heidi Howard
Chalmers, Biology and Biological Engineering, Industrial Biotechnology
Milan Macek
Motol University Hospital
Charles University
Alvaro Mendes
University of Porto
Chris Patch
Queen Mary University of London
Wellcome Connecting Science WCS
Emmanuelle Rial-Sebbag
Paul Sabatier University
Vigdis Stefansdottir
Landspitali University Hospital
Martina C. Cornel
University of Lausanne
Francesca Forzano
NHS Foundation Trust
European Journal of Human Genetics
1018-4813 (ISSN) 1476-5438 (eISSN)
Vol. 29 3 365-377Subject Categories (SSIF 2011)
Health Care Service and Management, Health Policy and Services and Health Economy
Ethics
Medical Ethics
DOI
10.1038/s41431-020-00758-w
PubMed
33223530