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Systematic review of preferences for additional findings from genomic testing

European Journal of Human Genetics volume 34, pages 10–26 (2026)Cite this article

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Abstract

The increasing use of genomic testing in clinical and research contexts raises how best to manage additional findings (AFs). This systematic review of the preferences of clinical patients and research participants for what and how AFs should be returned, aims to inform development of guidelines and policies that are inclusive of test recipients. Framework analysis was used to systematically review qualitative and quantitative studies exploring preferences for AFs in clinical and research contexts and identify key themes. Eighty-seven studies were included involving a total of 71,486 study participants. The right to choose whether and what AFs to receive was highly supported. Actionable findings and findings with familial implications were highly desired across studies. Additionally, a substantial number of studies identified mixed interest in findings currently not returned, including non-actionable findings and variants of unknown significance (VUS). Penetrance and certainty influenced perceived relevance and decisions regarding what to receive, with varying thresholds identified within studies. This review identified a consistent desire for systematic support for test recipient decision-making and managing AFs. The findings of this review support existing emphasis on recipient choice. However, recipient strength of preference for a broad variety of findings indicates that a minimum acceptable return of actionable findings should be established in national guidelines and the feasibility of offering other types of findings should be explored.

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Data availability

All data utilised in this systematic review came from published studies and their supplementary materials. Clarification of data sources available upon request.

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Acknowledgements

This systematic review was supported by the National Precision Health Research Translation for Breast and Prostate Cancer Prevention and Early Detection (INTREPID) research project research team and the authors gratefully acknowledge the collaborative support offered within the research team.

Funding

This systematic review was funded by the Australian Government’s National Health and Medical Research Council (NHMRC) Synergy Grants (GNT 2011329).

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Authors and Affiliations

  1. Economics of Genomics and Precision Medicine Unit, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia

    Daniel Sheen & Ilias Goranitis

  2. Clinical Translation and Engagement Platform, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia

    Amanda Willis & Mary-Anne Young

  3. School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2052, Australia

    Amanda Willis & Mary-Anne Young

  4. Implementation Research Group, Melbourne School of Health Sciences, University of Melbourne, Melbourne, Australia

    Zoe Fehlberg

  5. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Melbourne, Australia

    Melissa Southey

  6. Australian Genomics, Murdoch Children’s Research Institute, Melbourne, Australia

    Ilias Goranitis

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  3. Zoe Fehlberg
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  4. Melissa Southey
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  5. Ilias Goranitis
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Contributions

Conceptualization: DS, AW, IG, MAY; Data curation: DS, AW, ZF, MAY; Formal analysis: DS, AW, MAY; Funding Acquisition: MS, IG, MAY; Methodology: DS, AW, IG, MAY; Project administration: DS; Supervision: AW, IG, MAY; Validation: DS, AW, IG, MAY; Writing-original draft: D.S; Writing-review & editing: Authors.

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Correspondence to Mary-Anne Young.

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Sheen, D., Willis, A., Fehlberg, Z. et al. Systematic review of preferences for additional findings from genomic testing. Eur J Hum Genet 34, 10–26 (2026). https://doi.org/10.1038/s41431-025-01968-w

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