Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
Artikel i vetenskaplig tidskrift, 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.


Guido de Wert

Universiteit Maastricht

Wybo Dondorp

Universiteit Maastricht

Angus Clarke

Cardiff University

Elisabeth M. C. Dequeker

KU Leuven

Christophe Cordier

Synlab Academy

Zandra Deans

Royal Infirmary Edinburgh

Carla G. van El

Vrije Universiteit Amsterdam

Florence Fellmann

Université de Lausanne

Ros Hastings

John Radcliffe Hospital

Sabine Hentze

Zentrum für Humangenetik (ZHMA)

Heidi Howard

Chalmers, Biologi och bioteknik, Industriell bioteknik

Milan Macek

Univerzita Karlova

Motol University Hospital

Alvaro Mendes

Universidade do Porto

Chris Patch

Wellcome Connecting Science WCS

Queen Mary University of London

Emmanuelle Rial-Sebbag

Universite Paul Sabatier Toulouse III

Vigdis Stefansdottir

Landspitali University Hospital

Martina C. Cornel

Université de Lausanne

Francesca Forzano

Guy's and St Thomas' NHS Foundation Trust

European Journal of Human Genetics

1018-4813 (ISSN) 1476-5438 (eISSN)

Vol. 29 3 365-377


Hälso- och sjukvårdsorganisation, hälsopolitik och hälsoekonomi


Medicinsk etik





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