Title: DNA Testing for Hypertrophic Cardiomyopathy: A Cost-Effectiveness Model
Topic: General Cardiology
Date Posted: 3/29/2010
Author(s): Wordsworth S, Leal J, Blair E, et al.
Citation: Eur Heart J 2010; Mar 18:[Epub ahead of print].
Clinical Trial: No
Study Question: What is the most cost-effective way to screen family members for hypertrophic cardiomyopathy (HCM)?
Methods: This was an economic decision model comparing cascade screening by genetic, as opposed to clinical methods.
Results: The incremental cost per life-year saved was 14,397 euros for the cascade genetic compared with the cascade clinical approach. The costs for cascade molecular genetic testing were slightly higher than clinical testing in the short-term, but this was largely because the genetic approach is more effective and identifies more individuals at risk.
Conclusions: The authors concluded that the use of molecular genetic information in the diagnosis and management of HCM is a cost-effective approach to the primary prevention of sudden cardiac death (SCD) in these patients.
Perspective: The role of genetic screening in the management of patients with HCM is controversial. The cost of the testing, uncertainty surrounding the causality of some mutations identified, false negatives, and the practical impact on patient management are a few concerns. In this simulated analysis, the authors demonstrate the potential utility of a genetic screening approach for first degree relatives of an HCM proband. Although many assumptions are made, more patients at risk for sudden death could be identified with genetic screening, which would lead to a higher rate of implantable cardioverter defibrillator implants, and presumably reduced SCD. The argument for screening will become even stronger if therapies are identified that prevent or modify HCM development in mutation carriers. Daniel T. Eitzman, M.D., F.A.C.C.
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