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Economics of tandem mass spectrometry screening of neonatal inherited disorders

Published online by Cambridge University Press:  09 August 2006

Abdullah Pandor ,
Joe Eastham ,
James Chilcott ,
Suzy Paisley  and
Catherine Beverley
Abdullah Pandor
Affiliation:
University of Sheffield
Joe Eastham
Affiliation:
University of Leeds
James Chilcott
Affiliation:
University of Sheffield
Suzy Paisley
Affiliation:
University of Sheffield
Catherine Beverley
Affiliation:
University of Sheffield
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Abstract

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.

Keywords

Spectrum analysisMassInfantNewbornNeonatal screeningPhenylketonuriasMetabolismInborn errorsMedium chain acyl co-A dehydrogenase deficiencyCosts and cost analysis
Type
GENERAL ESSAYS
Information
International Journal of Technology Assessment in Health Care , Volume 22 , Issue 3 , July 2006 , pp. 321 - 326
Copyright
© 2006 Cambridge University Press

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References

Andresen BS, Dobrowolski SF, O'Reilly L, et al. 2001 Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 68: 1408– 1418.Google Scholar
Beecham J, O'Neill T, Goodman R. 2001 Supporting young adults with hemiplegia: Services and costs. Health Soc Care Community. 9: 51– 59.Google Scholar
Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B. 2001 Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies. Arch Dis Child Fetal Neonatal Ed. 85: F105– F109.Google Scholar
Clarke S. 2002 Tandem mass spectrometry: The tool of choice for diagnosing inborn errors of metabolism? Br J Biomed Sci. 59: 42– 46.Google Scholar
Clayton PT, Doig M, Ghafari S, et al. 1998 Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child. 79: 109– 115.Google Scholar
2002. Department of Health. Reference costs 2001. Leeds: NHS Executive;
Iafolla AK, Thompson RJ, Roe CR. 1994 Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children. J Pediatr. 124: 409– 415.Google Scholar
Leonard JV, Dezateux C. 2002 Screening for inherited metabolic diseases in newborn infants using tandem mass spectrometry. BMJ. 324: 4– 5.Google Scholar
Levy HL. 1998 Newborn screening by tandem mass spectrometry: A new era. Clin Chem. 44: 2401– 2402.Google Scholar
Lord J, Thomason MJ, Littlejohns P, et al. 1999 Secondary analysis of economic data: A review of cost-benefit studies of neonatal screening for phenylketonuria. J Epidemiol Community Health. 53: 179– 186.Google Scholar
Marshall E. 2001 Medicine. Fast technology drives new world of newborn screening. Science. 294: 2272– 2274.Google Scholar
Netton A, Rees T, Harrison G. 2001. Unit costs of health and social care: 2001. University of Kent UK: Personal Social Services Research Unit;
Oerton J. 2003 Newborn screening for medium chain acyl-CoA dehydrogenase deficiency. BIMDG Bull. 25: 3– 6.Google Scholar
Pandor A, Eastham J, Beverley C, Chilcott J, Paisley S. 2004 Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: A systematic review. Health Technol Assess. 8: 12.Google Scholar
Pollitt RJ, Green A, McCabe CJ, et al. 1997 Neonatal screening for inborn errors of metabolism: Cost, yield and outcome. Health Technol Assess. 1: 7.Google Scholar
Pourfarzam M, Morris AA, Appleton M, Craft A, Bartlett K. 2001 Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet. 358: 1063– 1064.Google Scholar
Scriver CR, Beaudet AL, Sly WS, Valle D. 2001. The metabolic and molecular bases of inherited diseases. New York: McGraw-Hill;
Seymour CA, Thomason MJ, Chalmers RA, et al. 1997 Newborn screening for inborn errors of metabolism: A systematic review. Health Technol Assess. 1: 11.Google Scholar
Tanner S, Sharrard M, Cleary M, et al. 2001 Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. BMJ. 322: 112.Google Scholar
Waisbren SE, Albers S, Amato S, et al. 2003 Effects of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 290: 2564– 2572.Google Scholar
Wilson CJ, Champion MP, Collins JE, Clayton PT, Leonard JV. 1999 Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child. 80: 459– 462.Google Scholar
Ziadeh R, Hoffman EP, Finegold DN, et al. 1995 Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies. Pediatr Res. 37: 675– 678.Google Scholar
Zytkovicz TH, Fitzgerald EF, Marsden D, et al. 2001 Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem. 47: 1945– 1955.Google Scholar