Original ArticleCascade screening based on genetic testing is cost-effective: Evidence for the implementation of models of care for familial hypercholesterolemia
Section snippets
Model structure
Decision analysis12 (Fig. 1) was applied for comparison of screening (screening group) and no screening (no screening group) of the relatives of index cases. Among subjects who had FH (either identified in the screening group or not identified in the no screening group), a Markov model12 with yearly cycles was constructed to simulate the onset of first-ever CHD and death over a 10-year time horizon (Fig. 2). The model comprised 3 health states: (1) “alive without CHD” (in which all subjects
Effectiveness of screening
The results of the base-case analysis showed that cascade screening for FH, assuming an underlying prevalence of FH of 54.3% in the screened population, would prevent 1 CHD event over 10 years for every 7.4 people screened. The number needed to screen (NNS) to prevent one CHD-related death would be 18.3.
Among the 54.3% of people who would have their underlying FH identified, the 10-year incidence of CHD would be reduced from 50.0% to 25.0%, equating to an NNS of 4.0. The predicted 10-year
Discussion
Our analysis suggests that cascade screening for FH using genetic testing supplemented by LDL-C testing, followed by statin treatment, represents a cost-effective means of preventing CHD. Probabilistic sensitivity analysis confirmed that cascade screening strategy followed by treatment was cost-effective in more than 99% of simulations.
A 10-year time horizon is short for patients whose mean age at the time of screening is 42 years. Extending the timeframe of FH model to 20 or 30 years would
Conclusion
Our analysis, based on the modeling of a representative sample of a service program for the detection of FH in an Australian community, clearly demonstrates that cascade screening for FH using a combination of genetic and phenotypic testing represents a cost-effective means of preventing CHD in at-risk families. The data support the recommendations of national and international models of care for FH.6, 13 The results provide a template that could be extended to inform strategies for the
Acknowledgment
The cascade-screening program for FH in Western Australia was funded by the Australia Better Health Initiative and the Department of Health of Western Australia.
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