Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.

Best, MC; Butow, P; Savard, J; Jacobs, C; Bartley, N; Davies, G; Napier, CE; Ballinger, ML; Thomas, DM; Biesecker, B; Tucker, KM; Juraskova, I; Meiser, B; Schlub, T; Newson, AJ

Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.

Best, MC Butow, P Savard, J Jacobs, C

Bartley, N

Davies, G Napier, CE Ballinger, ML Thomas, DM Biesecker, B Tucker, KM Juraskova, I Meiser, B Schlub, T Newson, AJ

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Publisher:: Springer Nature [academic journals on nature.com]
Publication Type:: Journal Article
Citation:: European Journal of Human Genetics, 2022, 30, (8), pp. 930-937
Issue Date:: 2022-08

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Field	Value	Language
dc.contributor.author	Best, MC
dc.contributor.author	Butow, P
dc.contributor.author	Savard, J
dc.contributor.author	Jacobs, C https://orcid.org/0000-0002-9557-9080
dc.contributor.author	Bartley, N https://orcid.org/0000-0001-9052-1616
dc.contributor.author	Davies, G
dc.contributor.author	Napier, CE
dc.contributor.author	Ballinger, ML
dc.contributor.author	Thomas, DM
dc.contributor.author	Biesecker, B
dc.contributor.author	Tucker, KM
dc.contributor.author	Juraskova, I
dc.contributor.author	Meiser, B
dc.contributor.author	Schlub, T
dc.contributor.author	Newson, AJ
dc.date.accessioned	2022-11-23T03:48:35Z
dc.date.available	2022-02-08
dc.date.available	2022-11-23T03:48:35Z
dc.date.issued	2022-08
dc.identifier.citation	European Journal of Human Genetics, 2022, 30, (8), pp. 930-937
dc.identifier.issn	1018-4813
dc.identifier.issn	1476-5438
dc.identifier.uri	http://hdl.handle.net/10453/163680
dc.description.abstract	Germline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide result return.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	Springer Nature [academic journals on nature.com]
dc.relation.ispartof	European Journal of Human Genetics
dc.relation.isbasedon	10.1038/s41431-022-01069-y
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	0604 Genetics, 1103 Clinical Sciences
dc.subject.classification	Genetics & Heredity
dc.subject.mesh	Base Sequence
dc.subject.mesh	Germ Cells
dc.subject.mesh	Humans
dc.subject.mesh	Neoplasms
dc.subject.mesh	Patient Preference
dc.subject.mesh	Surveys and Questionnaires
dc.subject.mesh	Base Sequence
dc.subject.mesh	Germ Cells
dc.subject.mesh	Humans
dc.subject.mesh	Neoplasms
dc.subject.mesh	Patient Preference
dc.subject.mesh	Surveys and Questionnaires
dc.subject.mesh	Germ Cells
dc.subject.mesh	Humans
dc.subject.mesh	Neoplasms
dc.subject.mesh	Base Sequence
dc.subject.mesh	Patient Preference
dc.subject.mesh	Surveys and Questionnaires
dc.title	Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.
dc.type	Journal Article
utslib.citation.volume	30
utslib.location.activity	England
utslib.for	0604 Genetics
utslib.for	1103 Clinical Sciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
utslib.copyright.status	open_access	*
pubs.consider-herdc	false
dc.date.updated	2022-11-23T03:48:33Z
pubs.issue	8
pubs.publication-status	Published
pubs.volume	30
utslib.citation.issue	8

Abstract:

Germline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide result return.

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http://hdl.handle.net/10453/163680