中国应用串联质谱技术进行新生儿遗传代谢病筛查：结果和成本效用分析。

Newborn screening for inherited metabolic diseases using tandem mass spectrometry in China: Outcome and cost-utility analysis.

机构信息

Department of Genetics and Metabolism, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Center for Health Policy Studies, School of Public Health, Zhejiang University School of Medicine, Hangzhou, China.

出版信息

J Med Screen. 2022 Mar;29(1):12-20. doi: 10.1177/09691413211021621. Epub 2021 Jun 9.

DOI:10.1177/09691413211021621

PMID:34102920

Abstract

OBJECTIVES

Few studies in China have focused on the economic evaluation of newborn screening (NBS) for inherited metabolic disorders (IMDs) by tandem mass spectrometry (MS/MS). This study assesses the total costs, benefits, benefit-cost ratio (BCR), cost-utility ratio (CUR) and incremental cost-utility ratio (ICUR) of NBS using MS/MS compared to the non-screened group.

METHODS

The NBS outcomes of newborns who underwent MS/MS screening for IMDs in 2009-2018 were retrospectively reviewed. Records were extracted from a screening management system at the NBS Center of Zhejiang province. A cost-benefit analysis of screening was conducted, assessing screening costs for each subject, and direct and indirect treatment costs for IMDs detected by screening. The putative benefit of clinical outcomes related to early diagnosis was assumed to be improvement in quality of life and prolonged life expectancy in the screened group, as compared to the non-screened group.

RESULTS

Of the 3,040,815 newborns screened, 735 (2.86%) cases were diagnosed through gene sequence analysis. The most frequently occurring types of IMD were amino acid disorders ( = 276), then fatty acid oxidation disorders ( = 248), followed by organic acidaemias ( = 211). The difference in quality-adjusted life-years (QALYs) ranged from 0.78 to 15.4 in the screened group. The CUR was CNY¥ 116,183.89/QALY in the screened group and CNY¥ 3,078,823.65/QALY in the non-screened group. The ICUR was CNY¥ -768,428.76/QALY, and the BCR was 6.09.

CONCLUSIONS

NBS using MS/MS can be considered cost-effective in China. The nationwide promotion of NBS using MS/MS deserves priority consideration and sufficient publicity.

摘要

目的

中国很少有研究关注串联质谱（MS/MS）进行新生儿遗传代谢疾病（IMD）筛查的经济评估。本研究通过成本效益分析评估了与非筛查组相比，MS/MS 用于 IMD 新生儿筛查的总成本、效益、效益成本比（BCR）、成本效用比（CUR）和增量成本效用比（ICUR）。

方法

回顾了 2009 年至 2018 年期间在浙江省新生儿筛查中心接受 MS/MS 筛查的新生儿的 NBS 结果。从浙江省 NBS 中心的筛查管理系统中提取记录。对筛查进行成本效益分析，评估每个受试者的筛查成本以及通过筛查检测到的 IMD 的直接和间接治疗成本。假设筛查组相对于非筛查组，与早期诊断相关的临床结果获益为生活质量的改善和预期寿命的延长。

结果

在筛查的 3040815 名新生儿中，有 735 例（2.86%）通过基因序列分析确诊。最常见的 IMD 类型为氨基酸代谢障碍（276 例），其次为脂肪酸氧化障碍（248 例），然后是有机酸血症（211 例）。筛查组的质量调整生命年（QALY）差异范围为 0.78 至 15.4。筛查组的 CUR 为 116183.89 元/QALY，非筛查组为 3078823.65 元/QALY。ICUR 为-768428.76 元/QALY，BCR 为 6.09。