Disclosure of cardiac variants of uncertain significance results in an exome cohort

T. A. Lawal, K. L. Lewis, J. J. Johnston, A. R. Heidlebaugh, D. Ng, Fannie Gaston Johansson, W. M.P. Klein, B. B. Biesecker, L. G. Biesecker

Research output: Contribution to journalArticle

Abstract

This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), perceived severity, perceived value of information, self-efficacy, decision regret, and behavioral intentions to share results and change behaviors. There was no significant difference between the 2 subclasses in overall behavioral intentions (t=0.023, P=.982) and each of the individual items on the behavioral intentions scale; absolute (t=-1.138, P=.259) or comparative (t=-0.463, P=.645) risk perceptions; perceived value of information (t=0.582, P=.563) and self-efficacy (t=-0.733, P=.466). Decision regret was significantly different (t=2.148, P=.035), with VUS-low (mean=17.24, SD=16.08) reporting greater regret. Combining the subclasses, perceived value of information was the strongest predictor of behavioral intentions (β=0.524, P<.001). Participants generally understood the meaning of a genetic VUS result classification and reported satisfaction with result disclosure. No differences in behavioral intentions were found, but differences in decision regret suggest participants distinguish subclasses of VUS results. The perceived value of VUS may motivate recipients to pursue health-related behaviors.

Original languageEnglish (US)
JournalClinical Genetics
DOIs
StateAccepted/In press - Jan 1 2018

Fingerprint

Exome
Disclosure
Emotions
Self Efficacy
Cardiomyopathies
Health

Keywords

  • Decision regret
  • Exome sequencing
  • Result disclosure
  • Variant of uncertain significance
  • VUS subclassification

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Lawal, T. A., Lewis, K. L., Johnston, J. J., Heidlebaugh, A. R., Ng, D., Gaston Johansson, F., ... Biesecker, L. G. (Accepted/In press). Disclosure of cardiac variants of uncertain significance results in an exome cohort. Clinical Genetics. https://doi.org/10.1111/cge.13220

Disclosure of cardiac variants of uncertain significance results in an exome cohort. / Lawal, T. A.; Lewis, K. L.; Johnston, J. J.; Heidlebaugh, A. R.; Ng, D.; Gaston Johansson, Fannie; Klein, W. M.P.; Biesecker, B. B.; Biesecker, L. G.

In: Clinical Genetics, 01.01.2018.

Research output: Contribution to journalArticle

Lawal, TA, Lewis, KL, Johnston, JJ, Heidlebaugh, AR, Ng, D, Gaston Johansson, F, Klein, WMP, Biesecker, BB & Biesecker, LG 2018, 'Disclosure of cardiac variants of uncertain significance results in an exome cohort', Clinical Genetics. https://doi.org/10.1111/cge.13220
Lawal, T. A. ; Lewis, K. L. ; Johnston, J. J. ; Heidlebaugh, A. R. ; Ng, D. ; Gaston Johansson, Fannie ; Klein, W. M.P. ; Biesecker, B. B. ; Biesecker, L. G. / Disclosure of cardiac variants of uncertain significance results in an exome cohort. In: Clinical Genetics. 2018.
@article{1eda4af31cc64864bc1b9dfa01092c84,
title = "Disclosure of cardiac variants of uncertain significance results in an exome cohort",
abstract = "This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), perceived severity, perceived value of information, self-efficacy, decision regret, and behavioral intentions to share results and change behaviors. There was no significant difference between the 2 subclasses in overall behavioral intentions (t=0.023, P=.982) and each of the individual items on the behavioral intentions scale; absolute (t=-1.138, P=.259) or comparative (t=-0.463, P=.645) risk perceptions; perceived value of information (t=0.582, P=.563) and self-efficacy (t=-0.733, P=.466). Decision regret was significantly different (t=2.148, P=.035), with VUS-low (mean=17.24, SD=16.08) reporting greater regret. Combining the subclasses, perceived value of information was the strongest predictor of behavioral intentions (β=0.524, P<.001). Participants generally understood the meaning of a genetic VUS result classification and reported satisfaction with result disclosure. No differences in behavioral intentions were found, but differences in decision regret suggest participants distinguish subclasses of VUS results. The perceived value of VUS may motivate recipients to pursue health-related behaviors.",
keywords = "Decision regret, Exome sequencing, Result disclosure, Variant of uncertain significance, VUS subclassification",
author = "Lawal, {T. A.} and Lewis, {K. L.} and Johnston, {J. J.} and Heidlebaugh, {A. R.} and D. Ng and {Gaston Johansson}, Fannie and Klein, {W. M.P.} and Biesecker, {B. B.} and Biesecker, {L. G.}",
year = "2018",
month = "1",
day = "1",
doi = "10.1111/cge.13220",
language = "English (US)",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",

}

TY - JOUR

T1 - Disclosure of cardiac variants of uncertain significance results in an exome cohort

AU - Lawal, T. A.

AU - Lewis, K. L.

AU - Johnston, J. J.

AU - Heidlebaugh, A. R.

AU - Ng, D.

AU - Gaston Johansson, Fannie

AU - Klein, W. M.P.

AU - Biesecker, B. B.

AU - Biesecker, L. G.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), perceived severity, perceived value of information, self-efficacy, decision regret, and behavioral intentions to share results and change behaviors. There was no significant difference between the 2 subclasses in overall behavioral intentions (t=0.023, P=.982) and each of the individual items on the behavioral intentions scale; absolute (t=-1.138, P=.259) or comparative (t=-0.463, P=.645) risk perceptions; perceived value of information (t=0.582, P=.563) and self-efficacy (t=-0.733, P=.466). Decision regret was significantly different (t=2.148, P=.035), with VUS-low (mean=17.24, SD=16.08) reporting greater regret. Combining the subclasses, perceived value of information was the strongest predictor of behavioral intentions (β=0.524, P<.001). Participants generally understood the meaning of a genetic VUS result classification and reported satisfaction with result disclosure. No differences in behavioral intentions were found, but differences in decision regret suggest participants distinguish subclasses of VUS results. The perceived value of VUS may motivate recipients to pursue health-related behaviors.

AB - This study examined the impact of disclosing subclassifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, subclassified into VUS-high or VUS-low. Primary outcomes were perceived risk (absolute and comparative), perceived severity, perceived value of information, self-efficacy, decision regret, and behavioral intentions to share results and change behaviors. There was no significant difference between the 2 subclasses in overall behavioral intentions (t=0.023, P=.982) and each of the individual items on the behavioral intentions scale; absolute (t=-1.138, P=.259) or comparative (t=-0.463, P=.645) risk perceptions; perceived value of information (t=0.582, P=.563) and self-efficacy (t=-0.733, P=.466). Decision regret was significantly different (t=2.148, P=.035), with VUS-low (mean=17.24, SD=16.08) reporting greater regret. Combining the subclasses, perceived value of information was the strongest predictor of behavioral intentions (β=0.524, P<.001). Participants generally understood the meaning of a genetic VUS result classification and reported satisfaction with result disclosure. No differences in behavioral intentions were found, but differences in decision regret suggest participants distinguish subclasses of VUS results. The perceived value of VUS may motivate recipients to pursue health-related behaviors.

KW - Decision regret

KW - Exome sequencing

KW - Result disclosure

KW - Variant of uncertain significance

KW - VUS subclassification

UR - http://www.scopus.com/inward/record.url?scp=85042661371&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85042661371&partnerID=8YFLogxK

U2 - 10.1111/cge.13220

DO - 10.1111/cge.13220

M3 - Article

JO - Clinical Genetics

JF - Clinical Genetics

SN - 0009-9163

ER -