Economics of tandem mass spectrometry screening of neonatal inherited disorders

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.

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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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Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

Health Technology Assessment ◽

10.3310/hta8120 ◽

2004 ◽

Vol 8 (12) ◽

Cited By ~ 77

Author(s):

A Pandor ◽

J Eastham ◽

C Beverley ◽

J Chilcott ◽

S Paisley

Keyword(s):

Mass Spectrometry ◽

Systematic Review ◽

Cost Effectiveness ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Inborn Errors Of Metabolism ◽

Clinical Effectiveness ◽

Tandem Mass ◽

Inborn Errors

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PIH14 COST-EFFECTIVENESS OF NEONATAL SCREENING FOR CONGENITAL ERRORS OF METABOLISM USING TANDEM MASS SPECTROMETRY

Value in Health ◽

10.1016/s1098-3015(10)73882-1 ◽

2009 ◽

Vol 12 (3) ◽

pp. A164

Author(s):

J Ramos Goñi ◽

P Serrano Aguilar ◽

M Sáenz-Torres ◽

M Posada

Keyword(s):

Mass Spectrometry ◽

Cost Effectiveness ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Tandem Mass

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Neonatal Screening for Galactosemia by Quantitative Analysis of Hexose Monophosphates Using Tandem Mass Spectrometry: A Retrospective Study

Clinical Chemistry ◽

10.1093/clinchem/47.8.1364 ◽

2001 ◽

Vol 47 (8) ◽

pp. 1364-1372 ◽

Cited By ~ 45

Author(s):

Ulrich Glümer Jensen ◽

Niels Jacob Brandt ◽

Ernst Christensen ◽

Flemming Skovby ◽

Bent Nørgaard-Pedersen ◽

...

Keyword(s):

Mass Spectrometry ◽

Quantitative Analysis ◽

Detection Limit ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Negative Ion ◽

Tandem Ms ◽

Tandem Mass ◽

Classic Galactosemia ◽

Screening Programs

Abstract Background: Classic galactosemia (OMIM 230400) is an inherited disorder in the metabolism of galactose caused by deficiency of the enzyme galactose 1-phosphate uridyl transferase (EC 2.7.7.12). Galactosemia leads to accumulation of galactose and galactose 1-phosphate (gal-1-P) in blood and tissues and, if untreated, produces neonatal death or severe mental retardation, cirrhosis of the liver, and cataracts. Hence, the disorder is included in many neonatal screening programs. Methods: We retrospectively analyzed filter-paper blood samples obtained 4–8 days postpartum for routine neonatal screening from 12 galactosemia patients and 2055 random controls. Total hexose monophosphates (HMPs) were used as a marker of gal-1-P and were assayed by negative-ion mode electrospray tandem mass spectrometry (tandem MS) with settings biased toward gal-1-P detection. The predominant precursor/product ion pair m/z 259/79 was used to quantify total HMPs by external standardization. Results: Linear calibration curves were obtained in the range 0–8 mmol/L gal-1-P. The detection limit was 0.1 mmol/L HMP, and total CVs ranged from 13% at the detection limit to <8% at >1 mmol/L HMP. The method was in agreement with an alkaline phosphatase-galactose dehydrogenase method. All samples from galactosemia patients contained increased HMP concentrations (range for patients, 2.6–5.2 mmol/L; range for reference group, <0.10–0.94 mmol/L). The diagnostic sensitivity and specificity were 100% at a cutoff of 1.2 mmol/L HMP. A Duarte/classic galactosemia compound heterozygous sample could be discriminated clearly from both patient and reference samples. Conclusion: Quantitative analysis of HMPs by tandem MS can be used in laboratory investigations of galactosemia.

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Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.07.76-77 ◽

2020 ◽

pp. 76-77

Author(s):

А.С. Святов ◽

А.В. Муртазалиева ◽

Г.С. Святова ◽

М.С. Кирикбаева

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Metabolic Diseases ◽

Screening Program ◽

Pilot Project ◽

Hereditary Diseases ◽

Tandem Mass ◽

Hereditary Metabolic Diseases ◽

The Republic

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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Clinical-effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462305300195 ◽

2005 ◽

Vol 21 (1) ◽

pp. 150-150 ◽

Cited By ~ 1

Author(s):

A. Pandor ◽

J. Eastham ◽

C. Beverley ◽

J. Chilcott ◽

S. Paisley

Keyword(s):

Mass Spectrometry ◽

Systematic Review ◽

Cost Effectiveness ◽

Tandem Mass Spectrometry ◽

Neonatal Screening ◽

Inborn Errors Of Metabolism ◽

Clinical Effectiveness ◽

Tandem Mass ◽

Inborn Errors

Objectives: The clinical- and cost-effectiveness of tandem mass spectrometry (MS)-based neonatal screening for inborn errors of metabolism (IEM) were evaluated.

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Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

The Journal of Pediatrics ◽

10.1016/j.jpeds.2018.09.063 ◽

2019 ◽

Vol 205 ◽

pp. 176-182 ◽

Cited By ~ 26

Author(s):

Min-Ju Chan ◽

Hsuan-Chieh Liao ◽

Michael H. Gelb ◽

Chih-Kuang Chuang ◽

Mei-Ying Liu ◽

...

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Screening Program ◽

Tandem Mass ◽

Newborn Screening Program

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Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry

Clinical Chemistry ◽

10.1093/clinchem/43.11.2106 ◽

1997 ◽

Vol 43 (11) ◽

pp. 2106-2113 ◽

Cited By ~ 180

Author(s):

Donald H Chace ◽

Steven L Hillman ◽

Johan L K Van Hove ◽

Edwin W Naylor

Keyword(s):

Mass Spectrometry ◽

Tandem Mass Spectrometry ◽

Newborn Screening ◽

Chain Length ◽

Filter Paper ◽

Tandem Mass ◽

Mcad Deficiency ◽

Medium Chain ◽

Blood Spots ◽

Medium Chain Length

Abstract We report the application of tandem mass spectrometry to prospective newborn screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. MCAD deficiency is diagnosed from dried blood spots on filter paper cards from newborns on the basis of the increase of medium chain length acylcarnitines identified by isotope dilution mass spectrometry methods. A robust and accurate semiautomated method for the analysis of medium chain length acylcarnitines as their butyl esters was developed and validated. Quantitative data from the analyses of 113 randomly collected filter paper blood spots from healthy newborns showed low concentrations of medium chain length acylcarnitines such as octanoylcarnitine. The maximum concentration of octanoylcarnitine was 0.22 μmol/L, with the majority being at or below the detection limit. In all 16 blood spots from newborns with confirmed MCAD deficiency, octanoylcarnitine was highly increased [median 8.4 μmol/L (range 3.1–28.3 μmol/L)], allowing easy detection. The concentration of octanoylcarnitine was significantly higher in these 16 newborns (<3 days of age) than in 16 older patients (ages 8 days to 7 years) with MCAD deficiency (median 1.57 μmol/L, range 0.33–4.4). The combined experience of prospective newborn screening in Pennsylvania and North Carolina has shown a disease frequency for MCAD deficiency of 1 in 17 706. No false-positive and no known false-negative results have been found. A validated method now exists for prospective newborn screening for MCAD deficiency.

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