A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
A cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy
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DOI：
10.1136/heartjnl-2011-300368
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发表时间：
2012-04-01
期刊：
影响因子：
5.7
通讯作者：
Semsarian, Christopher
中科院分区：
文献类型：
--
作者：
Ingles, Jodie;McGaughran, Julie;Semsarian, Christopher
背景肥厚型心肌病（HCM）家族的传统管理包括定期对家族成员进行终身临床筛查，由于不完全的遗传和显著的临床异质性，这种方法不能识别所有的基因携带者。可用性和成本的限制意味着基因检测不是许多HCM家庭常规临床管理的一部分。目的确定将基因检测添加到HCM家庭管理的成本效益，方法采用概率马尔可夫决策模型确定每个质量调整生命年的成本和每个生命年的成本。当基因检测被纳入澳大利亚HCM家庭的管理中时，结果与传统的定期临床筛查方法相比，其增量成本-效果比（ICER）为785美元（510磅或587的一个元素），每增加一个生命年增加12720澳元（8261磅或9509的一个元素），使基因检测成为一个非常具有成本效益的策略。敏感性分析显示先证者基因检测的费用是一个重要的变量。随着先证者基因检测成本的降低，ICER降低，当成本降至248澳元（161磅或185英镑的一部分）以下时，ICER可以节省成本。此外，突变识别率也是重要的，在减少整体ICER，虽然即使在上限，ICER仍然下降以及在接受的意愿支付bounds.Conclusions除了基因检测的管理HCM家庭是具有成本效益的常规方法相比，定期的临床筛查。这对HCM家庭的评估具有重要意义，并建议所有人都应该获得可以提供基因检测的专业心脏遗传诊所。
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 pound or is an element of 587) per quality-adjusted life-year gained, and $A12 720 (8261 pound or is an element of 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 pound or is an element of 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.