Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
Journal article, 2020

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.


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

Royal Infirm Edinburgh NHS Trust

Carla G. van El

Free University of Amsterdam

Florence Fellmann

University of Lausanne

Ros Hastings

John Radcliffe Hospital

Sabine Hentze

Praxis Humangenet

Heidi Howard

Chalmers, Biology and Biological Engineering, Industrial Biotechnology

Milan Macek

Motol Univ Hosp

Charles University

Alvaro Mendes

University of Porto

Chris Patch

Connecting Sci

Queen Mary University of London

Emmanuelle Rial-Sebbag

Universite Paul Sabatier Toulouse III

Vigdis Stefansdottir

Landspitali University Hospital

Martina C. Cornel

University of Lausanne

Francesca Forzano

Guys & St Thomas NHS Fdn Trust

European Journal of Human Genetics

1018-4813 (ISSN)

Vol. In Press

Subject Categories

Health Care Service and Management, Health Policy and Services and Health Economy


Medical Ethics





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