UK National Screening Committee has
announced that it is expanding the current NHS Newborn Blood Spot Screening programme to screen for homocystinuria (HCU), maple syrup urine disease (MSUD), glutaric aciduria type 1 (GA1) and isovaleric acidaemia (IVA).
The recommendations are based on the results of a pilot programme run by Sheffield Children’s NHS
Foundation Trust in which over 700,000 babies across the country were screened for the new diseases in addition to the current 5 for which every newborn is currently screened. As part of this study, HEDS were commissioned to undertake an analysis of the economic impact of expanding the screening programme.
Our analysis showed that screening for MSUD, HCU, IVA, GA1 and LCHADD are each estimated to be potentially cost saving and result in increased quality of life compared to no screening. A full probabilistic sensitivity analysis and value of information analysis was also undertaken to identify the key uncertainties of the headline results. The economic evaluation work was undertaken by
Jim Chilcott,
Alice Bessey,
Abdullah Pandor and
Suzy Paisley.
