Literature DB >> 29383714

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

T A Lawal1, K L Lewis2, J J Johnston2, A R Heidlebaugh3, D Ng2, F G Gaston-Johansson4, W M P Klein5, B B Biesecker3, L G Biesecker2.   

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.
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  VUS subclassification; decision regret; exome sequencing; result disclosure; variant of uncertain significance

Mesh:

Year:  2018        PMID: 29383714      PMCID: PMC5961741          DOI: 10.1111/cge.13220

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  29 in total

1.  A meta-analysis of the effectiveness of health belief model variables in predicting behavior.

Authors:  Christopher J Carpenter
Journal:  Health Commun       Date:  2010-12

2.  Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results.

Authors:  Jennifer M Taber; William M P Klein; Rebecca A Ferrer; Katie L Lewis; Leslie G Biesecker; Barbara B Biesecker
Journal:  Health Psychol       Date:  2014-10-13       Impact factor: 4.267

3.  Risk perceptions and participation in colorectal cancer screening.

Authors:  S J Blalock; B M DeVellis; R A Afifi; R S Sandler
Journal:  Health Psychol       Date:  1990       Impact factor: 4.267

4.  Variants of uncertain clinical significance as a result of BRCA1/2 testing: impact of an ambiguous breast cancer risk message.

Authors:  Sandra van Dijk; Christi J van Asperen; Catharina E Jacobi; Geraldine R Vink; Aad Tibben; Martijn H Breuning; Wilma Otten
Journal:  Genet Test       Date:  2004

5.  The Tripartite Model of Risk Perception (TRIRISK): Distinguishing Deliberative, Affective, and Experiential Components of Perceived Risk.

Authors:  Rebecca A Ferrer; William M P Klein; Alexander Persoskie; Aya Avishai-Yitshak; Paschal Sheeran
Journal:  Ann Behav Med       Date:  2016-10

6.  Self-efficacy: toward a unifying theory of behavioral change.

Authors:  A Bandura
Journal:  Psychol Rev       Date:  1977-03       Impact factor: 8.934

Review 7.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

Authors:  Ray E Hershberger; Dale J Hedges; Ana Morales
Journal:  Nat Rev Cardiol       Date:  2013-07-30       Impact factor: 32.419

8.  Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.

Authors:  Katie L Lewis; Paul K J Han; Gillian W Hooker; William M P Klein; Leslie G Biesecker; Barbara B Biesecker
Journal:  PLoS One       Date:  2015-07-17       Impact factor: 3.240

9.  More primary care patients regret health decisions if they experienced decisional conflict in the consultation: a secondary analysis of a multicenter descriptive study.

Authors:  Maria-Margarita Becerra-Perez; Matthew Menear; Stephane Turcotte; Michel Labrecque; France Légaré
Journal:  BMC Fam Pract       Date:  2016-11-10       Impact factor: 2.497

10.  How do research participants perceive "uncertainty" in genome sequencing?

Authors:  Barbara B Biesecker; William Klein; Katie L Lewis; Tyler C Fisher; Martha Frances Wright; Leslie G Biesecker; Paul K Han
Journal:  Genet Med       Date:  2014-05-29       Impact factor: 8.822

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  7 in total

Review 1.  Patients' views on variants of uncertain significance across indications.

Authors:  Kristin Clift; Sarah Macklin; Colin Halverson; Jennifer B McCormick; Abd Moain Abu Dabrh; Stephanie Hines
Journal:  J Community Genet       Date:  2019-08-20

2.  Genetic screening in heritable thoracic aortic disease-rationale, potentials and pitfalls.

Authors:  Metesh Acharya; Daniele Maselli; Giovanni Mariscalco
Journal:  Indian J Thorac Cardiovasc Surg       Date:  2021-03-02

3.  Return of individual research results from genomic research: A systematic review of stakeholder perspectives.

Authors:  Danya F Vears; Joel T Minion; Stephanie J Roberts; James Cummings; Mavis Machirori; Mwenza Blell; Isabelle Budin-Ljøsne; Lorraine Cowley; Stephanie O M Dyke; Clara Gaff; Robert Green; Alison Hall; Amber L Johns; Bartha M Knoppers; Stephanie Mulrine; Christine Patch; Eva Winkler; Madeleine J Murtagh
Journal:  PLoS One       Date:  2021-11-08       Impact factor: 3.240

Review 4.  Views on genomic research result delivery methods and informed consent: a review.

Authors:  Danya F Vears; Joel T Minion; Stephanie J Roberts; James Cummings; Mavis Machirori; Madeleine J Murtagh
Journal:  Per Med       Date:  2021-04-06       Impact factor: 2.512

Review 5.  The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.

Authors:  Nicolai P Ostberg; Mohammad A Zafar; Bulat A Ziganshin; John A Elefteriades
Journal:  Biomolecules       Date:  2020-01-24

6.  Discovery of over 200 new and expanded genetic conditions using GeneMatcher.

Authors:  K McWalter; E Torti; M Morrow; J Juusola; K Retterer
Journal:  Hum Mutat       Date:  2022-02-27       Impact factor: 4.700

7.  Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.

Authors:  Chloe Mighton; Salma Shickh; Elizabeth Uleryk; Petros Pechlivanoglou; Yvonne Bombard
Journal:  Genet Med       Date:  2020-09-14       Impact factor: 8.822

  7 in total

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