Luminesce Alliance funded the recently published report on the Economic Evaluation of newborn screening for severe combined immunodeficiency and spinal muscular atrophy.
The aim of the economic evaluation was to investigate the costs and outcomes associated with the introduction of population based newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) and spinal muscular atrophy (SMA) by generating measures of cost-effectiveness and budget impact. The economic question was whether a state-wide SMA and SCID NBS programme with presymptomatic treatment for these diseases is more cost-effective than clinical diagnosis and late initiation of treatment.
From an economic evaluation perspective, the findings indicate that the combined introduction of NBS for SCID and SMA would be considered cost-effective and cost-saving from a government perspective if combined with stem cell transplant for SCID and gene therapy for SMA. The main limitation of this study is a lack of long-term clinical data on novel treatments, such as gene therapy and nusinersen, to treat SMA. Comprehensive longitudinal follow-up data from the NSW/ACT screening pilot for these conditions will provide a better understanding of the impact of NBS on newly identified cases of SMA and SCID and inform improvements in NBS programmes and clinical care.
The report was prepared by the National Perinatal Epidemiology and Statistics Unit (NPESU) a unit within the Centre for Big Data Research in Health and the School of Women’s and Children’s Health of the University of New South Wales, Sydney (UNSW). The study was led by Prof Georgina M Chambers in collaboration with Dr Sophy TF Shih, Assoc Prof Michelle A Farrar, Dr Veronica Wiley, Dr Melanie Wong, and Elena Keller.