Psychological Distress and Quality of Life in Participants Undergoing Genetic Testing for Arrhythmogenic Right Ventricular Cardiomyopathy Caused by TMEM43 p.S358L: Is It Time to Offer Population-Based Genetic Screening?

Abstract

<b><i>Purpose:</i></b> We have identified 27 families in Newfoundland and Labrador (NL) with the founder variant <i>TMEM43</i> p.S358L responsible for 1 form of arrhythmogenic right ventricular cardiomyopathy. Current screening guidelines rely solely on cascade genetic screening, which may result in unrecognized, high-risk carriers who would benefit from preemptive implantable cardioverter-defibrillator therapy. This pilot study explored the acceptability among subjects to <i>TMEM43</i> p.S358L population-based genetic screening (PBGS) in this Canadian province. <b><i>Methods:</i></b> A prospective cohort study assessed attitudes, psychological distress, and health-related quality of life (QOL) in unselected individuals who underwent genetic screening for the <i>TMEM43</i> p.S358L variant. Participants (<i>n</i> = 73) were recruited via advertisements and completed 2 surveys at baseline, 6 months, and 1 year which measured health-related QOL (SF-36v2) and psychological distress (Impact of Events Scale). <b><i>Results:</i></b> No variant-positive carriers were identified. Of those screened through a telephone questionnaire, &#x3e;95% felt positive about population-genetic screening for <i>TMEM43</i> p.S358L, though 68% reported some degree of anxiety after seeing the advertisement. There were no significant changes in health-related QOL or psychological distress scores over the study period. <b><i>Conclusion:</i></b> Despite some initial anxiety, we show support for PBGS among research subjects who screened negative for the <i>TMEM43</i> p.S358L variant in NL. These findings have implications for future PBGS programs in the province.