Newborn screening for inborn errors of metabolism: a systematic review

Seymour CA, Thomason MJ, Chalmers RA, Addison GM, Bain MD, Cockburn F, Littlejohns P, Lord J, Wilcox AH
Record ID 31998008150
Authors' objectives:

To establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism.

To undertake a systematic review of the data as a basis for evaluation of newborn screening for inborn errors of metabolism.

To prepare an objective summary of the evidence on the appropriateness and need for variousexistingand possible neonatal screening programmes for inborn errors of metabolism in relation to the natural history of these diseases.

To identify gaps in existing knowledge and make recommendations for required primary research.

To make recommendations for the future development and organisation of neonatal screening for inborn errors of metabolism in the UK.

Authors' recommendations: Universal neonatal screening for PKU is worthwhile and should be continued. Cost-benefit analyses show that screening for PKU by itself justifies the collection and testing of neonatal blood spots. If the neonatal screening programme is to be expanded a clinical and supportive infrastructure for paediatric metabolism urgently needs to be established to provide adequate treatment and care for identified patients and their families. National programmes for neonatal screening for profound biotinidase deficiency and CAH would be justified on the evidence. If they were introduced, there would need to be structured, coordinated, on-going evaluation to ensure that they are cost-effective, with review after 5 years. Screening for MCAD deficiency should be seriously considered for inclusion in newborn screening programmes. Similarly, a case can be made for the introduction of newborn screening for GA1. The clinical effectiveness and cost-effectiveness of such screening would need to be carefully monitored, with review after 10 years. Such screening is dependent upon the introduction of tandem MS technology into newborn screening programmes. Tandem MS could simultaneously detect other selected disorders. There is insufficient evidence at present for the widespread introduction of tandem MS technology into newborn screening programmes in the UK. Tandem MS for newborn screening for PKU, MCAD, deficiency and GA1 should be further evaluated by primary research conducted over 5 years with a defined timetable and external and independent statistical, health economic and scientific monitoring and evaluation of the technology and programmes. This research should be conducted at four selected centres that have been identified as having the required infrastructure and appropriate expertise. During this primary research, and until reports are presented and decisions made, there should be an embargo on the introduction of tandem MS technology into newborn screening laboratories in the UK. There is no evidence to support a newborn screening programme for galactosaemia and any current newborn screening for galactosaemia should be discontinued. Screening for other inborn errors of metabolism is not warranted at this time. Technologies for fully automated immunoassay-based screening are not yet sufficiently developed. The benefits from a fully automated neonatal screening system, remain to be demonstrated. These benefits will probably only be achieved if the range of tests is expanded from CH (and PKU) alone and this will in turn depend upon decisions about other diseases to which newborn screening should be extended. At present there is no indication for newborn screening using molecular techniques.
Authors' methods: Systematic review
Project Status: Completed
URL for project:
Year Published: 1997
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: England, United Kingdom
MeSH Terms
  • Metabolism, Inborn Errors
  • Neonatal Screening
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
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