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Genet Med. 2019 Jun 20. doi: 10.1038/s41436-019-0582-2. [Epub ahead of print]

A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.

Author information

1
Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.
2
Department of Cardiology, Austin Health, Melbourne, VIC, Australia.
3
Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC, Australia.
4
Melbourne Genomics Health Alliance, Melbourne, VIC, Australia.
5
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
6
Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
7
Genomic Medicine, Royal Melbourne Hospital, Melbourne, VIC, Australia.
8
Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia. ilias.goranitis@unimelb.edu.au.
9
Australian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, VIC, Australia. ilias.goranitis@unimelb.edu.au.

Abstract

PURPOSE:

To assess the relative cost-effectiveness of cascade genetic testing in asymptomatic relatives of patients with dilated cardiomyopathy (DCM) compared with periodical clinical surveillance.

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.

KEYWORDS:

cost-effectiveness; dilated cardiomyopathy; economic evaluation; genomics

PMID:
31222143
DOI:
10.1038/s41436-019-0582-2

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