Expanded newborn screening

Probable benefits, harms and costs of expanding newborn screening


Expanded newborn screening: A review of the evidence is a systematic review of the evidence to support expansion of current UK newborn screening provision to include any of five additional forms of inherited metabolic disease (IMDs). These rare disorders could all be screened for using tandem mass spectrometry (MS/MS) techniques already in use for screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD), and are considered by laboratory and clinical experts to be priority conditions.

The Report includes analysis of the probable benefits, harms and costs of expanding newborn screening to include each of these five conditions, and of the steps needed before any change to the existing service could be implemented. The findings and recommendations of the Report were originally presented to the UK Newborn Screening Committee in March 2010.

This work was funded by the National Institute for Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care, South Yorkshire (CLAHRC-SY).

By Hilary Burton and Sowmiya Moorthie

Genomics and policy news

Sign up