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Updated: May 2, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
The effect of cardiac genetic testing on psychological well-being and illness perceptions
Kathleen T Hickey1, Robert R Sciacca2, Angelo B Biviano3
1Columbia University School of Nursing, Columbia University Medical Center, New York, NY, USA.
Objective:
To assess the effects of positive cardiac genetic diagnoses, ICD discharges, and arrhythmias on measures of psychological well-being.
Methods:
Fifty-eight adults with prior cardiac genetic testing were enrolled. Patient well-being was determined using the SF-36 (QoL), HADS-A and HADS-D (anxiety/depression), and IPQ-R (patients' perceptions of illness). Patients with positive and negative cardiac genetic test results were compared using non-parametric statistics.
Results:
Genetic testing yielded 76% with a positive diagnosis and 29% reported an ICD shock. QoL assessments (n = 33) were within normal ranges (mean of 50) with the exceptions of general health (44.1 ± 12.2, p < 0.01) and bodily pain (55.1 ± 9.1, p < 0.01) domains, but only the bodily pain domain showed differences between those with positive and negative cardiac genetic test results. Subjects with ICD discharges had higher scores than those without shocks in consequential and emotional IPQR subscales as well as greater perceived risks of experiencing a serious cardiac event, developing additional symptoms, or limitations in daily activities.
Conclusion:
Positive genetic results did not negatively impact patient well-being with the exception of the bodily pain domain of the SF-36.
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