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

de Wert, Guido, Dondorp, Wybo, Clarke, Angus, Dequeker, Elisabeth M. C., Cordier, Christophe, Deans, Zandra, van El, Carla G., Fellmann, Florence, Hastings, Ros, Hentze, Sabine, Howard, Heidi, Macek, Milan, Mendes, Alvaro, Patch, Chris, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Cornel, Martina C. and Forzano, Francesca 2021. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics 29 , pp. 365-377. 10.1038/s41431-020-00758-w

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Additional Information: This article is licensed under a Creative Commons Attribution 4.0 International License
Publisher: Nature Publishing Group
ISSN: 1018-4813
Date of First Compliant Deposit: 18 December 2020
Date of Acceptance: 27 October 2020
Last Modified: 20 Apr 2021 13:54

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