Disclosure of Cardiac Variants of Uncertain Significance Results in an Exome Cohort

ABSTRACT

This study examined the impact of disclosing sub-classifications of genetic variants of uncertain significance (VUS) on behavioral intentions. We studied return of VUS results to 79 individuals with a cardiomyopathy-associated VUS, sub-classified 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 two sub-classes in overall behavioral intentions (t=0.023, p=0.982) and each of the individual items on the behavioral intentions scale; absolute (t=-1.138, p=0.259) or comparative (t=-0.463, p=0.645) risk perceptions; perceived value of information (t=0.582, p=0.563) and self-efficacy (t=-0.733, p=0.466). Decision regret was significantly different (t=2.148, p=0.035), with VUS-low (mean= 17.24, SD= 16.08) reporting greater regret. Combining the sub-classes, perceived value of information was the strongest predictor of behavioral intentions (β = 0.524, p <0.001). 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 sub-classes of VUS results. The perceived value of VUS may motivate recipients to pursue health-related behaviors.

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