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Dates: 2005-2008
Funding: Department of Health
Information: Sarah Wordsworth and Jose Leal

Hypertrophic cardiomyopathy (HCM) is the most common monogenic cardiac disorder and a recognised cause of sudden cardiovascular death (SCD) in children and young people, including trained competitive athletes. The Department of Health (Oxford Genetics Knowledge Park) is undertaking research to target the population at risk of SCD through appropriate screening, which would avoid unnecessary deaths and reduce unnecessary testing and clinical surveillance. The health economic component of this research examines the cost-effectiveness of a genetic approach for the diagnosis of patients with HCM and at risk of sudden cardiac death.

An economic decision model was used to examine the relative cost effectiveness of cascade genetic versus cascade clinical testing for diagnosing HCM. The model was built using Treeage Data software (replicated in Excel) to estimate the lifetime resource costs and health outcomes (life years gained) of alternative strategies for diagnosing first degree asymptomatic family members (i.e. children) of a parent diagnosed with HCM (the proband).

The results suggest that cascade genetic testing is a cost-effective approach to the primary prevention of sudden cardiac death in these patients. The incremental cost per life year saved was estimated at £12,264 compared to the cascade clinical approach. The higher costs of genetic testing were offset by greater gains in life years saved compared to clinical testing . The simulation of asymptomatic families as opposed to single individuals showed that the marginal cost of the genetic testing approach decreased as more family members were tested and identified with the mutation.

S Wordsworth, J Leal, E Blair, R Legood, K Thomson, A Seller, J Taylor and H Watkins (2010): DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. - Eur Heart J.