A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy
复制标题
DOI：
10.1038/s41436-019-0582-2
复制
发表时间：
2019-12-01
影响因子：
8.8
通讯作者：
Goranitis, Illias
中科院分区：
文献类型：
--
作者：
Catchpool, Max;Ramchand, Jay;Goranitis, Illias
目的：评估级联基因检测在扩张型心肌病（DCM）患者的无症状亲属的相对成本效益与定期临床surveillance.Methods：决策分析模型，结合决策树和马尔可夫模型，被用来确定两种策略的终身成本和质量调整生命年（QURs）。进行了确定性和概率敏感性分析，以评估结果的鲁棒性，并探讨决策的不确定性。结果：每额外的QALY的级联基因检测之前，定期临床监测的一级亲属相比，定期临床监测单独的增量成本估计约为6100澳元。在既定的成本效益阈值下，级联基因检测具有成本效益的可能性为90%。广泛的敏感性分析，包括增加二级亲属，并没有改变的主要analysis.Conclusion得出的结论：使用级联基因检测，以指导临床监测无症状的亲属DCM患者是非常有可能是具有成本效益的。随着扩张型心肌病致病变异检出率的上升和高危个体个性化治疗的新证据的出现，级联检测的成本效益将进一步提高。
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.