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

Ingles, Jodie, Yeates, Laura, O'Brien, Lisa, McGaughran, Julie, Scuffham, Paul A., Atherton, John and Semsarian, Christopher (2012) Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life. Genetics in Medicine, 14 8: 749-752.

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Author Ingles, Jodie
Yeates, Laura
O'Brien, Lisa
McGaughran, Julie
Scuffham, Paul A.
Atherton, John
Semsarian, Christopher
Title Genetic testing for inherited heart diseases: Longitudinal impact on health-related quality of life
Journal name Genetics in Medicine   Check publisher's open access policy
ISSN 1098-3600
1530-0366
Publication date 2012
Sub-type Article (original research)
DOI 10.1038/gim.2012.47
Volume 14
Issue 8
Start page 749
End page 752
Total pages 4
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Collection year 2013
Language eng
Formatted abstract Purpose: A genetic diagnosis is an extremely useful tool in the management and care of families with inherited heart diseases, particularly in allowing clarification of risk status of asymptomatic family members. The psychosocial consequences of genetic testing in this group are poorly understood. This longitudinal pilot study sought to determine changes in health-related quality of life in patients and asymptomatic family members undergoing genetic testing for inherited heart diseases.

Methods: Individuals attending two specialized multidisciplinary cardiac genetic clinics in Australia 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 (version 2) was administered before the genetic result was given, and follow-up surveys were completed 1–3, 6, and 12 months after the result was given.

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 and 21 asymptomatic relatives. Physical and mental component scores analyzed at baseline and 1–3 months were found to be unchanged in all groups. Furthermore, no significant differences were observed up to 12 months after result.

Conclusion: In this longitudinal pilot study, no change in health-related quality of life was observed up to 12 months after the result was given in patients and their asymptomatic family members undergoing genetic testing for an inherited heart disease.
Keyword Genetic testing
Health-related quality of life
Hypertrophic cardiomyopathy
Long QT syndrome
Open Access Mandate Compliance Yes - Open Access (Publisher DOI)
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Advance Online Publication. Published online 03 May 2012.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2013 Collection
School of Medicine Publications
 
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Created: Tue, 29 May 2012, 18:59:54 EST by Associate Professor John Atherton on behalf of Medicine - Royal Brisbane and Women's Hospital