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

Pandor, A., Eastham, J., Beverley, C., Chilcott, J. and Paisley, S. (2004) Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review. Technical Report. Gray Publishing , Tunbridge Wells.

Published Version: http://www.hta.ac.uk/1264



To evaluate the clinical and costeffectiveness of tandem mass spectrometry (MS)-based neonatal screening for inborn errors of metabolism (IEM).

Data sources:

Fourteen electronic bibliographic databases covering biomedical, science, economic and grey literature, the reference lists of relevant articles and abstracts of conference proceedings and 18 health services research-related resources.

Review methods:

This review is an update of two previous HTA reports of neonatal screening for IEM. These reports have been updated by a systematic review of published research (between 1995 and January 2002) on neonatal screening of inherited metabolic disorders using tandem MS. This was supplemented by a search for economic literature and the application of a modelling exercise to investigate the economics of using tandem MS within a neonatal screening programme in the UK.


Evidence from the reviews of IEM found that the UK screening programme for phenylketonuria (PKU) was well established and there was universal agreement that neonatal screening for PKU was justified. Of the many other disorders that can be detected by tandem MS, the best candidate condition for a new screening programme was medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. For many other IEM that can be detected by tandem MS, robust clinical evidence was limited. Costeffectiveness analysis using economic modelling indicated that substituting the use of tandem MS for existing technologies for the screening of PKU alone could not be justified. However, results from the economic modelling indicate that the addition of screening for MCAD deficiency as part of a neonatal screening programme for PKU using tandem MS would be economically attractive. Using an operational range of 50,000–60,000 specimens per system per year, the mean incremental cost for PKU and MCAD deficiency screening combined using tandem MS from the model was –£23,312 for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 59 life-years. Additional economic modelling using the available evidence does not support including other inherited metabolic diseases within a neonatal screening programme at present.

Conclusions: The evidence appears to support the introduction of tandem MS into a UK neonatal screening programme for PKU and MCAD deficiency combined. Tandem MS has the potential for simultaneous multi-disease screening using a single analytical technique. Although the marginal cost of extending the programme to include other conditions may be relatively small, the application of this new technology to PKU and MCAD deficiency screening does not imply the wholesale inclusion of all disorders detectable by tandem MS. It is suggested that the primary focus of further research should be on the long-term effectiveness of treatment strategies on adverse outcomes (disabilities and impairments) under conventional management and the potential impact of early diagnosis using tandem MS.

Item Type: Monograph (Technical Report)
Copyright, Publisher and Additional Information: Copyright: Queen’s Printer and Controller of HMSO 2004 HTA reports may be freely reproduced for the purposes of private research and study and may be included in professional journals provided that suitable acknowledgement is made and the reproduction is not associated with any form of advertising. Violations should be reported to hta@soton.ac.uk Applications for commercial reproduction should be addressed to HMSO, The Copyright Unit, St Clements House, 2-16 Colegate, Norwich, NR3 1BQ
Keywords: Neonatal screening, Clinical effectiveness, Cost effectiveness, Inborn errors of metabolism, Mass spectrometry, Systematic review, Cost benefit analysis, Newborn infant
Institution: The University of Sheffield, The University of Leeds
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Health and Related Research (Sheffield)
The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Leeds Institute of Health Sciences (Leeds) > Centre for Health and Social Care (Leeds)
Depositing User: Diana Papaioannou
Date Deposited: 12 Dec 2006
Last Modified: 03 Apr 2016 22:41
Published Version: http://www.hta.ac.uk/1264
Status: Published
Publisher: Gray Publishing
Identification Number: ISSN 1366-5278
URI: http://eprints.whiterose.ac.uk/id/eprint/1800

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