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, Paisley S
Record ID 32004000155
English
Authors' objectives:
The aim of this review was to evaluate the clinical and cost-effectiveness of tandem mass spectrometry (MS)-based neonatal screening for inborn errors of metabolism. This review is an update of two previous HTA reports of neonatal screening for inborn errors of metabolism.
Authors' recommendations:
This systematic review evaluated the clinical and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem MS. The evidence appears to support the introduction of tandem MS into a UK neonatal screening programme for PKU and MCAD deficiency combined.
New technological approaches for automated processing coupled with the use of computer-assisted software would allow the analysis of hundreds of samples on a daily basis and minimise labour costs. Tandem MS has the potential for simultaneous multidisease screening using a single analytical technique. However, it is difficult to draw firm conclusions on extending the UK neonatal screening programme to all disorders detectable by tandem MS. 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. Robust evidence on the underlying incidence and outcomes for many of the disorders was lacking, particularly differences in long-term outcomes that could be attributed to therapies initiated as a consequence of presymptomatic detection using tandem MS.
Authors' methods:
Systematic review
Details
Project Status:
Completed
URL for project:
http://www.hta.ac.uk/1264
Year Published:
2004
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
England, United Kingdom
MeSH Terms
- Acyl-CoA Dehydrogenase
- Costs and Cost Analysis
- Mass Spectrometry
- Metabolism, Inborn Errors
- Neonatal Screening
- Phenylketonurias
Contact
Organisation Name:
NIHR Health Technology Assessment programme
Contact Address:
NIHR Journals Library, National Institute for Health and Care Research, Evaluation, Trials and Studies Coordinating Centre, Alpha House, University of Southampton Science Park, Southampton SO16 7NS, UK
Contact Name:
journals.library@nihr.ac.uk
Contact Email:
journals.library@nihr.ac.uk
Copyright:
2009 Queen's Printer and Controller of HMSO
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.