Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life

Ingles, Jodie, Yeates, Laura, Hunt, Lisa, McGaughran, Julie, Scuffham, Paul, Atherton, John and Semsarian, Christopher (2012). Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life. In: Heart Rhythm Society’s 33rd Annual Scientific Sessions, Boston, MA, United States, (). 9-12 May 2012.

Author Ingles, Jodie
Yeates, Laura
Hunt, Lisa
McGaughran, Julie
Scuffham, Paul
Atherton, John
Semsarian, Christopher
Title of paper Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life
Conference name Heart Rhythm Society’s 33rd Annual Scientific Sessions
Conference location Boston, MA, United States
Conference dates 9-12 May 2012
Publication Year 2012
Sub-type Oral presentation
Language eng
Formatted Abstract/Summary
Introduction: A genetic diagnosis is extremely useful in managing families with inherited heart diseases, particularly in clarification of risk status of asymptomatic relatives. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal study sought to determine changes in health-related quality of life of individuals undergoing genetic testing for inherited heart diseases.
Methods: Individuals attending 2 multidisciplinary cardiac genetic clinics were invited to participate. Patients undergoing proband or predictive genetic testing for an inherited cardiomyopathy or primary arrhythmogenic disorder were eligible. The Medical Outcomes Short Form-36 (v2) was administered at baseline, then 1-3, 6 and 12 months post-result. The four participant groups were: probands with a genetic diagnosis (Grp1), and no mutation found (Grp2); asymptomatic individuals who receive a positive predictive result (Grp3) and a negative predictive result (Grp4). Non-responders were those who completed a baseline but no further surveys.
Results: A total of 54 individuals with hypertrophic cardiomyopathy, familial dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and long QT syndrome completed baseline and at least one follow-up survey, including 33 probands (Grp1 & 2) and 21 asymptomatic relatives (Grp3 & 4). Grp1 had a mean age 48 ± 13 yrs (47% males), Grp2 were 52 ± 19 yrs ( 63% males). Grp3 were 40 ± 10 yrs (29% males), and Grp4 were 48 ± 13 yrs (36% males). Physical and mental component scores analysed at baseline and 1-3 months were unchanged in all groups. Importantly, no significant differences were observed up to 12 months post-result. There were 8 non-responders and their baseline surveys were comparable to the responders, including 4/5 asymptomatic non-responders who received a positive gene result.
Conclusions: In this longitudinal pilot study, no change in health-related quality of life was observed up to 12 months post-result in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease. This suggests patients and at-risk relatives cope well with all outcomes of a genetic testing.
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Created: Tue, 29 May 2012, 20:30:26 EST by Associate Professor John Atherton on behalf of Medicine - Royal Brisbane and Women's Hospital