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Published on: August 17, 2022
Towards responsible genome-wide screening: normative and stakeholder considerations
Corrette Ploem1, Guido de Wert2, Sara Soriano Longarón3
1Department of Ethics, Law and Humanities, Amsterdam UMC, Amsterdam, The Netherlands.
European Journal of Human Genetics : EJHG
|May 21, 2026
Summary
Responsible genome-wide screening requires careful consideration of ethical issues and stakeholder views. A cautious approach is needed, especially for direct-to-consumer genetic testing, to ensure benefits outweigh harms.
Area of Science:
- Genomics and Personalized Medicine
- Bioethics
- Public Health
Background:
- Genome-wide screening offers significant potential for early disease detection and reproductive choices.
- However, challenges exist in data analysis, result interpretation, and communication of findings.
Purpose of the Study:
- To explore considerations for responsible genome-wide screening across different settings.
- To analyze stakeholder views on key screening issues.
Main Methods:
- Normative analysis of population screening, opportunistic screening, and direct-to-consumer genetic testing.
- Exploration of views from 25 professionals and 15 potential users.
Main Results:
- Broad consensus supports a cautious approach to genome-wide screening.
- Proportionality (benefits outweighing harm) is crucial but not always evident for expansions.
- Direct-to-consumer genetic testing raises the most proportionality concerns.
Conclusions:
- Responsible implementation requires well-defined ethical frameworks and pilot studies evaluating individual and societal impacts.
- Special attention is needed for newborns and children in all screening settings.
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