A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

Turbitt, E; Chrysostomou, PP; Peay, HL; Heidlebaugh, AR; Nelson, LM; Biesecker, BB

A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study

Turbitt, E

Chrysostomou, PP Peay, HL Heidlebaugh, AR Nelson, LM Biesecker, BB

Permalink

Publication Type:: Journal Article
Citation:: European Journal of Human Genetics, 2018, 26 (5), pp. 622 - 630
Issue Date:: 2018-05-01

Closed Access

	Filename	Description	Size
	41431_2018_Article_105.pdf	Published Version	1.2 MB	Adobe PDF	View/Open

Copyright Clearance Process

Recently Added
In Progress
Closed Access

This item is closed access and not available.

Full metadata record

Field	Value	Language
dc.contributor.author	Turbitt, E https://orcid.org/0000-0002-6650-9702	en_US
dc.contributor.author	Chrysostomou, PP	en_US
dc.contributor.author	Peay, HL	en_US
dc.contributor.author	Heidlebaugh, AR	en_US
dc.contributor.author	Nelson, LM	en_US
dc.contributor.author	Biesecker, BB	en_US
dc.date.available	2018-01-11	en_US
dc.date.issued	2018-05-01	en_US
dc.identifier.citation	European Journal of Human Genetics, 2018, 26 (5), pp. 622 - 630	en_US
dc.identifier.issn	1018-4813	en_US
dc.identifier.uri	http://hdl.handle.net/10453/134190
dc.description.abstract	© 2018 European Society of Human Genetics. To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: 'sequencing benefits' knowledge (d = 0.12, 95%CI: -0.03,0.27), 'sequencing limitations' knowledge (d = 0.04, 95%CI: -0.13,0.21), expected personal benefits (d = -0.01, 95%CI: -0.26,0.23), and decisional conflict (d = 0.04, 95%CI: -0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.	en_US
dc.relation.ispartof	European Journal of Human Genetics	en_US
dc.relation.isbasedon	10.1038/s41431-018-0105-7	en_US
dc.subject.classification	Genetics & Heredity	en_US
dc.subject.mesh	Humans	en_US
dc.subject.mesh	Decision Making	en_US
dc.subject.mesh	Genetic Counseling	en_US
dc.subject.mesh	Genome, Human	en_US
dc.subject.mesh	Informed Consent	en_US
dc.subject.mesh	Adolescent	en_US
dc.subject.mesh	Adult	en_US
dc.subject.mesh	Patient Participation	en_US
dc.subject.mesh	Female	en_US
dc.subject.mesh	Young Adult	en_US
dc.subject.mesh	Primary Ovarian Insufficiency	en_US
dc.subject.mesh	Whole Genome Sequencing	en_US
dc.title	A randomized controlled study of a consent intervention for participating in an NIH genome sequencing study	en_US
dc.type	Journal Article
utslib.citation.volume	5	en_US
utslib.citation.volume	26	en_US
utslib.for	1103 Clinical Sciences	en_US
utslib.for	0604 Genetics	en_US
pubs.embargo.period	Not known	en_US
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Graduate School of Health
utslib.copyright.status	closed_access
pubs.issue	5	en_US
pubs.publication-status	Published	en_US
pubs.volume	26	en_US

Abstract:

© 2018 European Society of Human Genetics. To make an informed choice to participate in a genome sequencing study that may yield primary and secondary findings, one understands relevant information in the context of personal values. Consent forms to enroll in a sequencing study can be long and complex. The efficacy of the professional encounter to consider the information contained in the consent form and make an informed choice is unknown. Women diagnosed with primary ovarian insufficiency and eligible for a sequencing study were randomized to participate in one of two encounters with a genetic counselor: a consent intervention using a lower literacy, less dense form or a standard consent encounter. Data were complete for 188 of 225 participants. The average time was 32 min for the intervention and 34 min for the standard, with the intervention encounter generating more questions from participants. At six weeks following consent, no differences were found between the two groups in primary outcomes: 'sequencing benefits' knowledge (d = 0.12, 95%CI: -0.03,0.27), 'sequencing limitations' knowledge (d = 0.04, 95%CI: -0.13,0.21), expected personal benefits (d = -0.01, 95%CI: -0.26,0.23), and decisional conflict (d = 0.04, 95%CI: -0.14,0.21). Although intentions to learn secondary variants were high, only 60% (113) of participants made an informed choice as defined by the multi-dimensional model of informed choice. We found that a modified consent intervention was as effective as a standard encounter and led to more interaction. Our data suggest that making decisions to receive secondary findings may be particularly challenging and in need of further investigation to achieve informed choice.

Please use this identifier to cite or link to this item:

http://hdl.handle.net/10453/134190