Economic Evaluation of Different Screening Strategies for Severe Combined Immunodeficiency Based on Real-Life Data

Abstract

Although several countries have adopted severe combined immunodeficiency (SCID) into their newborn screening (NBS) program, other countries are still in the decision process of adding this disorder in their program and finding the appropriate screening strategy. This decision may be influenced by the cost(-effectiveness) of these screening strategies. In this study, the cost(-effectiveness) of different NBS strategies for SCID was estimated based on real-life data from a prospective implementation study in the Netherlands. The cost of testing per child for SCID was estimated at EUR 6.36. The cost of diagnostics after screen-positive results was assessed to vary between EUR 985 and 8561 per child dependent on final diagnosis. Cost-effectiveness ratios varied from EUR 41,300 per QALY for the screening strategy with T-cell receptor excision circle (TREC) ≤ 6 copies/punch to EUR 44,100 for the screening strategy with a cut-off value of TREC ≤ 10 copies/punch. The analysis based on real-life data resulted in higher costs, and consequently in less favorable cost-effectiveness estimates than analyses based on hypothetical data, indicating the need for verifying model assumptions with real-life data. The comparison of different screening strategies suggest that strategies with a lower number of referrals, e.g., by distinguishing between urgent and less urgent referrals, are favorable from an economic perspective.

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

“…This process is envisioned as a starting point for better defining each of the criteria used in selecting screening disorders going forward [909]. Several reports contribute to documenting the process for adding SCID to the NBS panel [910], including preliminary SCID incidence findings [911], screening assay evaluation [912], screening cost effectiveness [913], reporting (or not) incidental findings [914], various screening strategies and their real life economic evaluation [915], and parents' perspectives and societal acceptance of SCID screening [916,917]. Interestingly, the Health Council has been formally asked for advice on when "non-treatable" disorders might be screened and a report on their response has been published [918].…”