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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Cardiac genetic testing: a single-center pilot study of a Dominican population
Kathleen T Hickey1, Jacquelyn Y Taylor, Robert R Sciacca
1Columbia University, New York, USA.
Abstract:
The impact of undergoing genetic testing in a Dominican population is not well understood. The objective of this investigation was to evaluate the psychological well-being and perceived cardiac risk among Dominicans who underwent genetic testing. Participants completed a qualitative interview and the Short Form-36 (SF-36) questionnaire after cardiac genetic testing. There were 31 subjects evaluated (mean age 42 ± 11 years). Participants revealed three common themes: (a) fear of dying prematurely, (b) guilt of possibly passing on a mutation to their children, and (c) fear of having an implantable cardioverter defibrillator (ICD) shock. Physical components of the SF-36 were within normal limits (46.2 ± 6.6) but elevated for mental components (59.9 ± 5.3). The quality of life and specific themes results determined in this investigation warrant further research in the Dominican population.
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