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. 2018 Jun;27(3):709-722.
doi: 10.1007/s10897-017-0172-x. Epub 2017 Nov 22.

Impact of Receiving Secondary Results From Genomic Research: A 12-Month Longitudinal Study

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Free PMC article

Impact of Receiving Secondary Results From Genomic Research: A 12-Month Longitudinal Study

Julia Wynn et al. J Genet Couns. .
Free PMC article

Abstract

The impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separated into two arms: 107 who had ES and were offered the choice to learn secondary results (ES group) and 85 who had not yet had ES (No ES group). Questionnaires were administered at baseline and 1 and 12 months, following results disclosure (ES group) or enrollment (No ES group). While the majority (65%) elected to learn all results following pre-test counseling, it was reduced from the 76% who indicated a desire for all results at baseline. Thirty-seven percent received results associated with an increased personal disease risk. There were no differences in changes in any of the psychological and social measures from baseline to post-results disclosure between the ES and No ES groups. Receiving a wide range of secondary findings appeared to have little measurable impact on most participants. The experience of learning secondary results may be related to participants' previous experiences with genetics, as well as the genetic counseling provided. Future research with a more diverse, genetically naïve group, as well as scalable methods of delivery, is needed.

Keywords: Exome sequencing; Genetic counseling; Incidental findings; Psychosocial measures; Secondary findings.

Conflict of interest statement

COMPLIANCE WITH ETHICAL STANDARDS CONFLICT OF INTEREST

Julia Wynn, Josue Martinez, Jessica Bulafka, Jimmy Duong, Yuan Zheng, Codruta Chiuzan, Preti Jain, Maria L Cremona, Vaidehi Jobanputra, Abby J Fyer, Robert L Klitzman, Paul S Appelbaum, and Wendy K. Chung have no conflict of interests.

Figures

Figure 1
Figure 1
Participant anxiety (a), depression (b) and health worry (c) scores at baseline, 1 month and 12 months post-results disclosure (ES groups) and post-enrollment (No ES group) stratified by study group (Exome sequencing with personal disease risk (ES w/PDR), ES w/o PDR and No ES). Individual participant scores are shown by grey lines with overlaid means scores at each time point shown by a black line. The dotted line indicates the threshold for diagnosis of anxiety or depression. Abbreviations: exome sequencing (ES) personal disease risk (PDR)
Figure 1
Figure 1
Participant anxiety (a), depression (b) and health worry (c) scores at baseline, 1 month and 12 months post-results disclosure (ES groups) and post-enrollment (No ES group) stratified by study group (Exome sequencing with personal disease risk (ES w/PDR), ES w/o PDR and No ES). Individual participant scores are shown by grey lines with overlaid means scores at each time point shown by a black line. The dotted line indicates the threshold for diagnosis of anxiety or depression. Abbreviations: exome sequencing (ES) personal disease risk (PDR)
Figure 1
Figure 1
Participant anxiety (a), depression (b) and health worry (c) scores at baseline, 1 month and 12 months post-results disclosure (ES groups) and post-enrollment (No ES group) stratified by study group (Exome sequencing with personal disease risk (ES w/PDR), ES w/o PDR and No ES). Individual participant scores are shown by grey lines with overlaid means scores at each time point shown by a black line. The dotted line indicates the threshold for diagnosis of anxiety or depression. Abbreviations: exome sequencing (ES) personal disease risk (PDR)
Figure 2
Figure 2
Percentage of participants who had shared results with different types of people at 1 month and 12 months post-results disclosure stratified by those with PDR and those without. (chi squared test: no significant difference for any category) Abbreviations: exome sequencing (ES) personal disease risk (PDR)

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