The newborn bloodspot screening programme in England currently tests babies for five disorders; phenylketonuria, congenital hypothyroidism, sickle cell disorders, cystic fibrosis and MCADD. The NHS NIHR programme has funded a pilot to evaluate expansion of the programme to include screening for five further conditions, maple syrup urine disease (MSUD), homocystinuria (HCY), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and long chain hydroxy acyl CoA dehydrogenase deficiency (LCHADD). The expanded newborn screening pilot involves six screening centres in England (Leeds, Manchester, Sheffield, Birmingham, Guy's St Thomas and Great Ormond Street) and the populations they serve and is co-ordinated by the South Yorkshire Collaboration for Leadership in Applied Health Research and Care (SY-CLARHC).
In parallel with the pilot evaluation the School of Health and Related Research (ScHARR) was commissioned to undertake an analysis of the economic impact of expanding the screening programme. The economic model is based upon data obtained from the expanded screening pilot, a systematic review of published and unpublished screening programme data, other published literature and expert judgement obtained from professionals involved in the screening pilot.
Screening for MSUD, HCY, 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 results of the pilot study and the cost-effectiveness analysis are currently open for consultation until 20th January. The reports and consultation form are available here. The economic evaluation work was undertaken by Jim Chilcott, Alice Bessey, Abdullah Pandor and Suzy Paisley.
