Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
(2021) In European Journal of Human Genetics 29(3). p.365-377- 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... (More)
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.
(Less)
- author
- organization
- publishing date
- 2021
- type
- Contribution to journal
- publication status
- published
- subject
- in
- European Journal of Human Genetics
- volume
- 29
- issue
- 3
- pages
- 365 - 377
- publisher
- Nature Publishing Group
- external identifiers
-
- scopus:85096376587
- pmid:33223530
- ISSN
- 1018-4813
- DOI
- 10.1038/s41431-020-00758-w
- language
- English
- LU publication?
- yes
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- eca3dd22-8c2d-4d40-bb8e-a0e3a85792e9
- date added to LUP
- 2020-12-02 13:43:57
- date last changed
- 2024-06-14 03:47:25
@article{eca3dd22-8c2d-4d40-bb8e-a0e3a85792e9,
abstract = {{<p>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.</p>}},
author = {{de Wert, Guido and Dondorp, Wybo and Clarke, Angus and Dequeker, Elisabeth M.C. and Cordier, Christophe and Deans, Zandra and van El, Carla G. and Fellmann, Florence and Hastings, Ros and Hentze, Sabine and Howard, Heidi and Macek, Milan and Mendes, Alvaro and Patch, Chris and Rial-Sebbag, Emmanuelle and Stefansdottir, Vigdis and Cornel, Martina C. and Forzano, Francesca}},
issn = {{1018-4813}},
language = {{eng}},
number = {{3}},
pages = {{365--377}},
publisher = {{Nature Publishing Group}},
series = {{European Journal of Human Genetics}},
title = {{Opportunistic genomic screening. Recommendations of the European Society of Human Genetics}},
url = {{http://dx.doi.org/10.1038/s41431-020-00758-w}},
doi = {{10.1038/s41431-020-00758-w}},
volume = {{29}},
year = {{2021}},
}