PIH24 COST-UTILITY ANALYSIS OF NEWBORN SCREENING PROGRAM BY TANDEM MASS SPECTROMETRY IN JAPAN

AbstractIntroductionIn the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.MethodsTandem mass spectrometry was used for the screening of dried blood spot samples. Next-generation sequencing was introduced for confirmatory testing. Existing heterogeneous hospital information systems were connected to the same laboratory information system to allow barcode identification of samples, creating reports, and providing information necessary for interpreting the results.ResultsIn t he first y ear of t he expanded newborn screening a total of 15,064 samples w ere screened. Four patients were confirmed positive with additional testing.ConclusionsAn expanded newborn screening program was successfully implemented with the first patients diagnosed before severe clinical consequences.

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

Journal of Medical Screening ◽

10.1177/09691413211021621 ◽

2021 ◽

pp. 096914132110216

Author(s):

Zixuan Zhao ◽

Chi Chen ◽

Xueshan Sun ◽

Duo Zhou ◽

Xinwen Huang ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Metabolic Diseases ◽

Cost Benefit Analysis ◽

Cost Utility ◽

Acid Oxidation ◽

Cost Ratio ◽

Tandem Mass ◽

Life Years

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 ( n = 276), then fatty acid oxidation disorders ( n = 248), followed by organic acidaemias ( n = 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.

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How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

10.21203/rs.3.rs-571454/v1 ◽

2021 ◽

Author(s):

Mingren Yu ◽

Juan Xu ◽

Xiaohong Song ◽

Jiayue Du

Keyword(s):

Mass Spectrometry ◽

Cost Effectiveness ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Screening Program ◽

Cost Effective ◽

Tandem Mass ◽

National Program ◽

Screening Programs ◽

The Cost

Abstract Background: Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study is to determine the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, and determine IEMs for detection.Methods: A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. The current screening program and nationally recommended program were compared and we also compared the programs detecting different numbers of IEMs, which are chosen from the national program. A sensitivity analysis and budget impact analysis (BIA) were performed.Results: The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical value. The BIA indicated the implementation cost of the national program to be around 580 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs. Conclusions: We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected, which we label the “ICER maximization idea” and the “ICER validation idea” are also presented.

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Newborn Screening for Inherited Metabolic Diseases Using Tandem Mass Spectrometry in China: outcome and cost-utility analysis

10.21203/rs.3.rs-124404/v1 ◽

2020 ◽

Author(s):

Zixuan Zhao ◽

Chi Chen ◽

Xueshan Sun ◽

Duo ZHOU ◽

Xinwen Huang ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Metabolic Diseases ◽

Life Time ◽

Cost Utility ◽

Acid Oxidation ◽

Cost Ratio ◽

Tandem Mass ◽

Inherited Metabolic Diseases

Abstract BackgroundFew studies in China have focused on economic evaluation of newborn screening(NBS) for inherited metabolic diseases (IMDs) by tandem mass spectrometry (MS/MS). This study assessed 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 non-screening group for the first time.MethodsThis study was conducted as a retrospective piece. Newborns who underwent MS/MS screening for IMDs from 2009 to 2018 were included. All records were extracted from a screening management system in NBS Center of Zhejiang province. All costs, including indirect cost, were discounted at a rate of 5% for the whole life-time. The putative benefit of clinical outcomes related to early-diagnosis through screening was assumed as improvements in quality of life and potential life expectancy in screening group.ResultsOf the 3,040,815 newborns screened, 26,297(0.86%) newborns were suspected positive after first-round screening and called back to take another MS/MS screening. 25,670(97.62%) of them followed the latter procedures and finally 735(2.86%) cases were diagnosed through gene sequence analysis. The most frequent cause of IMD was amino acid diseases(n=276), in most cases fatty acid oxidation disorders (n=248), followed by organic acidemias (n=211). The difference of QALYs ranged from 0.78-15.4. The CUR was CNY¥86,155.80/QALY in screening group and CNY¥303,9517.32/QALY in non-screening group. The ICUR was CNY¥-795,686.47/QALY, and the BCR was 1:8.11.ConclusionsNBS using MS/MS can be considered as cost-effective. Nationwide promotion of NBS using MS/MS deserves priority consideration and sufficient publicity.

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Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2020-0694 ◽

2021 ◽

Vol 0 (0) ◽

Author(s):

Yiming Lin ◽

Weifeng Zhang ◽

Zhixu Chen ◽

Chunmei Lin ◽

Weihua Lin ◽

...

Keyword(s):

Mass Spectrometry ◽

Genetic Analysis ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Dehydrogenase Deficiency ◽

Late Onset ◽

False Negative ◽

Tandem Mass ◽

Lipid Storage Myopathy ◽

Molecular Features

Abstract Objectives Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by ETFDH mutations and is the most common lipid storage myopathy in China. However, few patients with MADD have been identified through newborn screening (NBS). This study assessed the acylcarnitine profiles and molecular features of patients with MADD identified through NBS. Methods From January 2014 to June 2020, 479,786 newborns screened via tandem mass spectrometry were recruited for this study. Newborns with elevated levels of multiple acylcarnitines were recalled, those who tested positive in the reassessment were referred for genetic analysis. Results Of 479,786 newborns screened, six were diagnosed with MADD. The MADD incidence in the Chinese population was estimated to be 1:79,964. Initial NBS revealed five patients with typical elevations in the levels of multiple acylcarnitines; however, in one patient, acylcarnitine levels were in the normal reference range during recall. Notably, one patient only exhibited a mildly increased isovalerylcarnitine (C5) level at NBS. The patient with an atypical acylcarnitine profile was diagnosed with MADD by targeted gene sequencing. Six distinct ETFDH missense variants were identified, with the most common variant being c.250G>A (p.A84T), with an allelic frequency of 58.35 (7/12). Conclusions These findings revealed that it is easy for patients with MADD to go unidentified, as they may have atypical acylcarnitine profiles at NBS and the recall stage, indicating the value of genetic analysis for confirming suspected inherited metabolic disorders in the NBS program. Therefore, false-negative (FN) results may be reduced by combining tandem mass spectrometry (MS/MS) with genetic testing in NBS for MADD.

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