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Systematic review of preferences for additional findings from genomic testing
Daniel Sheen1, Amanda Willis2,3, Zoe Fehlberg4
1Economics of Genomics and Precision Medicine Unit, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia.
European Journal of Human Genetics : EJHG
|November 20, 2025
Summary
Patients and research participants strongly prefer choosing which genomic additional findings (AFs) they receive. Guidelines should support this choice while exploring options for returning more types of genetic results.
Area of Science:
- Genomic Medicine
- Clinical Genetics
- Bioethics
Background:
- Genomic testing is increasingly used in clinical and research settings.
- Managing additional findings (AFs) from genomic tests presents challenges.
- Understanding participant preferences for AFs is crucial for guideline development.
Purpose of the Study:
- To systematically review patient and participant preferences for receiving AFs.
- To inform the development of inclusive guidelines and policies for AF return.
- To identify key themes in preferences for AF management.
Main Methods:
- Systematic review using framework analysis.
- Inclusion of qualitative and quantitative studies on AF preferences.
- Analysis of 87 studies with 71,486 participants.
Main Results:
- Strong support for the right to choose whether and what AFs to receive.
- High demand for actionable findings and those with familial implications.
- Mixed interest in non-actionable findings and variants of unknown significance (VUS).
Conclusions:
- Test recipients desire systematic support for decision-making regarding AFs.
- Findings support recipient choice in AF return.
- National guidelines should establish minimum actionable AF return and explore offering other findings.
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