Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
Details
Serval ID
serval:BIB_6FEC196D50D6
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
Journal
European journal of human genetics
Working group(s)
European Society of Human Genetics
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
03/2021
Peer-reviewed
Oui
Volume
29
Number
3
Pages
365-377
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Publication Status: ppublish
Abstract
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.
Keywords
Europe, Genetic Testing/ethics, Genetic Testing/standards, Human Genetics/ethics, Human Genetics/organization & administration, Human Genetics/standards, Humans, Practice Guidelines as Topic, Societies, Medical/standards
Pubmed
Web of science
Open Access
Yes
Create date
26/11/2020 22:57
Last modification date
08/08/2024 6:35