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Title: A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.
Austin Authors: Catchpool, Max;Ramchand, Jay ;Martyn, Melissa;Hare, David L ;James, Paul A;Trainer, Alison H;Knight, Josh;Goranitis, Ilias
Affiliation: Genomic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia
Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia
Department of Cardiology, Austin Health, Heidelberg, Victoria, Australia
Melbourne Genomics Health Alliance, Melbourne, Victoria, Australia
Murdoch Children's Research Institute, Melbourne, Victoria, Australia
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Australian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, Victoria, Australia
Issue Date: 2019 2019-06-20
Publication information: Genetics in medicine : official journal of the American College of Medical Genetics 2019; 21(12): 2815-2822
Abstract: To 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.
DOI: 10.1038/s41436-019-0582-2
ORCID: 0000-0002-6382-9890
PubMed URL: 31222143
Type: Journal Article
Subjects: cost-effectiveness
dilated cardiomyopathy
economic evaluation
Appears in Collections:Journal articles

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