Adding genetic testing to hypertrophic cardiomyopathy family management was cost-effective compared with clinical screening alone, with an ICER of $A785 per quality-adjusted life-year gained.
Effect estimate: ICER $A785 per QALY gained
BACKGROUND: Traditional management of families with hypertrophic cardiomyopathy (HCM) involves periodic lifetime clinical screening of family members, an approach that does not identify all gene carriers owing to incomplete penetrance and significant clinical heterogeneity. Limitations in availability and cost have meant genetic testing is not part of routine clinical management for many HCM families. OBJECTIVE: To determine the cost-effectiveness of the addition of genetic testing to HCM family management, compared with clinical screening alone. METHODS: A probabilistic Markov decision model was used to determine cost per quality-adjusted life-year and cost for each life-year gained when genetic testing is included in the management of Australian families with HCM, compared with the conventional approach of periodic clinical screening alone. RESULTS: The incremental cost-effectiveness ratio (ICER) was A785 (£510 or €587) per quality-adjusted life-year gained, and A12 720 (£8261 or €9509) per additional life-year gained making genetic testing a very cost-effective strategy. Sensitivity analyses showed that the cost of proband genetic testing was an important variable. As the cost of proband genetic testing decreased, the ICER decreased and was cost saving when the cost fell below A248 (£161 or €185). In addition, the mutation identification rate was also important in reducing the overall ICER, although even at the upper limits, the ICER still fell well within accepted willingness to pay bounds. CONCLUSIONS: The addition of genetic testing to the management of HCM families is cost-effective in comparison with the conventional approach of regular clinical screening. This has important implications for the evaluation of families with HCM, and suggests that all should have access to specialised cardiac genetic clinics that can offer genetic testing.
Ingles et al. (Tue,) conducted a other in Hypertrophic cardiomyopathy (HCM). Genetic testing vs. Clinical screening alone was evaluated on Cost per quality-adjusted life-year and cost for each life-year gained (ICER $A785 per QALY gained). Adding genetic testing to hypertrophic cardiomyopathy family management was cost-effective compared with clinical screening alone, with an ICER of $A785 per quality-adjusted life-year gained.
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