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dc.contributor.authorCatchpool, Max-
dc.contributor.authorRamchand, Jay-
dc.contributor.authorMartyn, Melissa-
dc.contributor.authorHare, David L-
dc.contributor.authorJames, Paul A-
dc.contributor.authorTrainer, Alison H-
dc.contributor.authorKnight, Josh-
dc.contributor.authorGoranitis, Ilias-
dc.identifier.citationGenetics in medicine : official journal of the American College of Medical Genetics 2019; 21(12): 2815-2822-
dc.description.abstractTo assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) compared with periodical clinical surveillance. A decision-analytic model, combining a decision tree and a Markov model, was used to determine the lifetime costs and quality-adjusted life years (QALYs) for the two strategies. Deterministic and probabilistic sensitivity analyses were undertaken to assess the robustness of findings and to explore decision uncertainty. The incremental cost per additional QALY of cascade genetic testing prior to periodical clinical surveillance of first-degree relatives compared with periodical clinical surveillance alone was estimated at approximately AUD $6100. At established thresholds of cost-effectiveness, there is a 90% probability that cascade genetic testing is cost-effective. Extensive sensitivity analyses, including the addition of second-degree relatives, did not alter the conclusions drawn from the main analysis. Using cascade genetic testing to guide clinical surveillance of asymptomatic relatives of patients with DCM is very likely to be cost-effective. As the DCM pathogenic variant detection rate rises and new evidence for personalized treatment of at-risk individuals becomes available, the cost-effectiveness of cascade testing will further increase.-
dc.subjectdilated cardiomyopathy-
dc.subjecteconomic evaluation-
dc.titleA cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.-
dc.typeJournal Article-
dc.identifier.journaltitleGenetics in medicine : official journal of the American College of Medical Genetics-
dc.identifier.affiliationGenomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australiaen
dc.identifier.affiliationCentre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australiaen
dc.identifier.affiliationDepartment of Cardiology, Austin Health, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationMelbourne Genomics Health Alliance, Melbourne, Victoria, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Victoria, Australiaen
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Victoria, Australiaen
dc.identifier.affiliationAustralian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, Victoria, Australiaen
dc.type.austinJournal Article-
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