Journal article
Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies
- Abstract:
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Purpose: As whole-exome and whole-genome sequencing (WES/WGS) move into routine clinical practice, it is timely to review data that might inform the debate around secondary findings (SF) and the development of policies that maximize participant benefit.
Methods: We systematically searched for qualitative and quantitative studies that explored stakeholder views on SF in WES/WGS. Framework analysis was undertaken to identify major themes.
Results: 44 articles reporting the views of 11,566 stakeholders were included. Stakeholders were broadly supportive of returning ‘actionable’ findings, but definitions of actionability varied. Stakeholder views on SF disclosure exist along a spectrum: potential WES/WGS recipients’ views were largely influenced by a sense of rights, while views of genomics professionals were informed by a sense of professional responsibility. Experience of genetic illness and testing resulted in greater caution about SF, suggesting that truly informed decisions require an understanding of the implications and limitations of WES/WGS and possible findings.
Conclusion: This review suggests that bidirectional interaction during consent might best facilitate informed decision-making about SF, and that dynamic forms of consent, allowing for changing preferences, should be considered. Research exploring views from wider perspectives and from recipients who have received SF is critical if evidence-based policies are to be achieved.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Publisher copy:
- 10.1038/gim.2016.109
Authors
- Funding agency for:
- Fletcher, B
- Funding agency for:
- Ormondroyd, E
- Watkins, H
- Publisher:
- Nature Publishing Group
- Journal:
- Genetics in Medicine More from this journal
- Publication date:
- 2016-09-01
- Acceptance date:
- 2016-06-20
- DOI:
- EISSN:
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1530-0366
- ISSN:
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1098-3600
- Keywords:
- Pubs id:
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pubs:641147
- UUID:
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uuid:435bc69e-6edf-471c-80b7-0594e54df75a
- Local pid:
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pubs:641147
- Source identifiers:
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641147
- Deposit date:
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2016-09-01
- ARK identifier:
Terms of use
- Copyright holder:
- Mackley, et al
- Copyright date:
- 2016
- Notes:
- This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
- Licence:
- CC Attribution (CC BY)
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