Bessey Alice, Chilcott James, Pandor Abdullah, Paisley Suzy
School of Health and Related Research, the University of Sheffield, Sheffield S1 4DA, UK.
Int J Neonatal Screen. 2020 Nov 20;6(4):93. doi: 10.3390/ijns6040093.
Glutaric aciduria type 1, homocystinuria, isovaleric acidaemia, long-chain hydroxyacyl CoA dehydrogenase deficiency and maple syrup urine disease are all inborn errors of metabolism that can be detected through newborn bloodspot screening. This evaluation was undertaken in 2013 to provide evidence to the UK National Screening Committee for the cost-effectiveness of including these five conditions in the UK Newborn Bloodspot Screening Programme. A decision-tree model with lifetable estimates of outcomes was built with the model structure and parameterisation informed by a systematic review and expert clinical judgment. A National Health Service/Personal Social Services perspective was used, and lifetime costs and quality-adjusted life years (QALYs) were discounted at 1.5%. Uncertainty in the results was explored using expected value of perfect information analysis methods together with a sensitivity analysis using the screened incidence rate in the UK from 2014 to 2018. The model estimates that screening for all the conditions is more effective and cost saving when compared to not screening for each of the conditions, and the results were robust to the updated incidence rates. The key uncertainties included the sensitivity and specificity of the screening test and the estimated costs and QALYs.
戊二酸血症1型、同型胱氨酸尿症、异戊酸血症、长链羟酰基辅酶A脱氢酶缺乏症和枫糖尿症均为先天性代谢缺陷病，可通过新生儿血斑筛查检测出来。2013年进行了此项评估，旨在为英国国家筛查委员会提供证据，证明将这五种病症纳入英国新生儿血斑筛查计划的成本效益。构建了一个带有结局生命表估计值的决策树模型，该模型的结构和参数设定依据系统评价和专家临床判断。采用了国民医疗服务体系/个人社会服务视角，终身成本和质量调整生命年（QALYs）按1.5%进行贴现。使用完全信息分析方法的期望值以及利用2014年至2018年英国筛查发病率进行的敏感性分析，探讨了结果的不确定性。该模型估计，与不对每种病症进行筛查相比，对所有病症进行筛查更具成效且节省成本，并且结果对更新后的发病率具有稳健性。关键的不确定性因素包括筛查试验的敏感性和特异性以及估计的成本和QALYs。
