Department of General Paediatrics, Division of Inherited Metabolic Diseases, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg 69120, Germany.
Orphanet J Rare Dis. 2013 Oct 17;8:167. doi: 10.1186/1750-1172-8-167.
Glutaric aciduria type I (GA-I) is a rare metabolic disorder caused by inherited deficiency of glutaryl-CoA dehydrogenase. Despite high prognostic relevance of early diagnosis and start of metabolic treatment as well as an additional cost saving potential later in life, only a limited number of countries recommend newborn screening for GA-I. So far only limited data is available enabling health care decision makers to evaluate whether investing into GA-I screening represents value for money. The aim of our study was therefore to assess the cost-effectiveness of newborn screening for GA-I by tandem mass spectrometry (MS/MS) compared to a scenario where GA-I is not included in the MS/MS screening panel.
We assessed the cost-effectiveness of newborn screening for GA-I against the alternative of not including GA-I in MS/MS screening. A Markov model was developed simulating the clinical course of screened and unscreened newborns within different time horizons of 20 and 70 years. Monte Carlo simulation based probabilistic sensitivity analysis was used to determine the probability of GA-I screening representing a cost-effective therapeutic strategy.
Within a 20 year time horizon, GA-I screening averts approximately 3.7 DALYs (95% CI 2.9 - 4.5) and about one life year is gained (95% CI 0.7 - 1.4) per 100,000 neonates screened initially . Moreover, the screening programme saves a total of around 30,682 Euro (95% CI 14,343 to 49,176 Euro) per 100,000 screened neonates over a 20 year time horizon.
Within the limitations of the present study, extending pre-existing MS/MS newborn screening programmes by GA-I represents a highly cost-effective diagnostic strategy when assessed under conditions comparable to the German health care system.
I 型戊二酸血症(GA-I)是一种罕见的代谢紊乱疾病,由谷氨酸酰辅酶 A 脱氢酶遗传性缺乏引起。尽管早期诊断和开始代谢治疗的预后相关性很高,以及以后的生活中具有额外的节省成本潜力,但只有有限的几个国家建议对 GA-I 进行新生儿筛查。到目前为止,只有有限的数据可以使医疗保健决策者评估对 GA-I 筛查进行投资是否物有所值。因此,我们的研究目的是通过串联质谱(MS/MS)评估对 GA-I 进行新生儿筛查的成本效益,与不在 MS/MS 筛查面板中包含 GA-I 的情况进行比较。
我们评估了通过 MS/MS 对 GA-I 进行新生儿筛查与不将 GA-I 纳入 MS/MS 筛查的替代方案相比的成本效益。开发了一个马尔可夫模型,模拟了在 20 年和 70 年不同时间范围内筛查和未筛查新生儿的临床过程。基于蒙特卡罗模拟的概率敏感性分析用于确定 GA-I 筛查代表成本效益治疗策略的概率。
在 20 年的时间范围内,GA-I 筛查可避免约 3.7 DALYs(95%CI 2.9-4.5),并在每 10 万筛查新生儿中获得约 1 个生命年(95%CI 0.7-1.4)。此外,在 20 年的时间范围内,筛查计划为每 10 万筛查新生儿总共节省约 30682 欧元(95%CI 14343 至 49176 欧元)。
在本研究的限制范围内,当根据与德国医疗保健系统可比的条件评估时,通过 GA-I 扩展现有的 MS/MS 新生儿筛查计划是一种具有高度成本效益的诊断策略。