Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency

Abstract

Evidence on the cost-effectiveness of newborn screening (NBS) for severe combined immunodeficiency (SCID) in the Australian policy context is lacking. In this study, a pilot population-based screening program in Australia was used to model the cost-effectiveness of NBS for SCID from the government perspective. Markov cohort simulations were nested within a decision analytic model to compare the costs and quality-adjusted life-years (QALYs) over a time horizon of 5 and 60 years for two strategies: (1) NBS for SCID and treat with early hematopoietic stem cell transplantation (HSCT); (2) no NBS for SCID and treat with late HSCT. Incremental costs were compared to incremental QALYs to calculate the incremental cost-effectiveness ratios (ICER). Sensitivity analyses were performed to assess the model uncertainty and identify key parameters impacting on the ICER. In the long-term over 60 years, universal NBS for SCID would gain 10 QALYs at a cost of US $0.3 million, resulting in an ICER of US$33,600/QALY. Probabilistic sensitivity analysis showed that more than half of the simulated ICERs were considered cost-effective against the common willingness-to-pay threshold of A$50,000/QALY (US$35,000/QALY). In the Australian context, screening for SCID should be introduced into the current NBS program from both clinical and economic perspectives.

Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency

“…From August 2018 to August 2020, in total 202,388 newborns were screened for SMA and PID, specifically SCID and B-cell deficiency [ 25 , 26 ]. There were 18 potential SMA and 114 potential PID cases detected during the pilot screening period, and further samples were requested for diagnosis where 17 SMA and 8 PID cases were proven [ 26 , 27 ].…”

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…Both SCID and SMA are being added to each program on different timeframes. In 2022, an economic evaluation of NBS for SCID was published suggesting the value of SCID screening on both clinical and economic grounds [ 408 ] and government cost savings were also illustrated for a combined NBS approach with SCID and SMA [ 409 ]. Several reports involving NBS for SMA, including results of pilot studies, have been recently published as Australian NBS programs consider its possible addition: a prospective description of the experiences in implementing NBS for SMA in NSW [ 410 ]; a discussion of the first pilot screening project from August 2018 until January 2021 [ 411 ]; a thematic analysis of parents’ perceptions and the psychological impact of NBS for SMA [ 412 ]; a “value-for-money” assessment of NBS and gene therapy from a clinical and policy point of view [ 413 ]; a study demonstrating that NBS and early access to disease-modifying therapies effectively ameliorate the functional burden and associated comorbidities for affected children [ 414 ]; and a study demonstrating the technical feasibility of NBS for SMA using NGS in a multiplex platform may provide simultaneous testing for hundreds of inherited conditions [ 415 ].…”