California's Experience Implementing a Pilot Newborn Supplemental Screening Program Using Tandem Mass Spectrometry

PEDIATRICS ◽  
2006 ◽  
Vol 117 (Supplement 3) ◽  
pp. S261-S269 ◽  
Author(s):  
Lisa Feuchtbaum ◽  
Fred Lorey ◽  
Lisa Faulkner ◽  
John Sherwin ◽  
Robert Currier ◽  
...  
2019 ◽  
Vol 205 ◽  
pp. 176-182 ◽  
Author(s):  
Min-Ju Chan ◽  
Hsuan-Chieh Liao ◽  
Michael H. Gelb ◽  
Chih-Kuang Chuang ◽  
Mei-Ying Liu ◽  
...  

2021 ◽  
Author(s):  
Mingren Yu ◽  
Juan Xu ◽  
Xiaohong Song ◽  
Jiayue Du

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.


2006 ◽  
Vol 22 (3) ◽  
pp. 321-326 ◽  
Author(s):  
Abdullah Pandor ◽  
Joe Eastham ◽  
James Chilcott ◽  
Suzy Paisley ◽  
Catherine Beverley

Objectives:The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).Methods:A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was performed. Marginal costs, life-years gained, and cost-effectiveness acceptability curves are presented.Results:Substituting the use of tandem MS for existing technologies for the screening of PKU increases costs with no increase in health outcomes. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS, with an operational range of 50,000 to 60,000 specimens per system per year, would result in a mean incremental cost of −£17,298 (−£129,174, £66,434) for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 57.3 (28.0, 91.4) life-years.Conclusions:Cost-effectiveness analysis using economic modeling indicates that substituting the use of tandem MS for existing technologies for the screening of PKU alone is not economically justified. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS would be economically attractive.


2020 ◽  
Vol 59 (4) ◽  
pp. 256-263
Author(s):  
Barbka Repič Lampret ◽  
Žiga Iztok Remec ◽  
Ana Drole Torkar ◽  
Mojca Žerjav Tanšek ◽  
Andraz Šmon ◽  
...  

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.


Author(s):  
А.С. Святов ◽  
А.В. Муртазалиева ◽  
Г.С. Святова ◽  
М.С. Кирикбаева

Массовое обследование новорождённых в программе неонатального скрининга в Республике Казахстан проводится на 2 наследственных заболевания - фенилкетонурию и врожденный гипотиреоз. В 2019 году был проведен пилотный проект исследований методом тандемной масс-спектрометрии 1000 детей до 1 года на 49 наследственных болезней обмена. Mass examination of newborns in the neonatal screening program in the Republic of Kazakhstan is carried out for 2 hereditary diseases - phenylketonuria and congenital hypothyroidism. In 2019 pilot project was conducted for 1000 studies using tandem mass spectrometry of children under age of 1 year for 49 hereditary metabolic diseases.


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