van den Akker-van Marle M Elske, Blom Maartje, van der Burg Mirjam, Bredius Robbert G M, Van der Ploeg Catharina P B
Unit Medical Decision Making, Department of Biomedical Data Sciences, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Laboratory for Pediatric Immunology, Department of Pediatrics, Willem-Alexander Children's Hospital, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands.
Int J Neonatal Screen. 2021 Sep 15;7(3):60. doi: 10.3390/ijns7030060.
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.
尽管有几个国家已将重症联合免疫缺陷病（SCID）纳入其新生儿筛查（NBS）项目，但其他国家仍在决定是否将这种疾病纳入其项目以及寻找合适的筛查策略。这一决定可能会受到这些筛查策略的成本（效益）的影响。在本研究中，基于荷兰一项前瞻性实施研究的实际数据，对不同的SCID新生儿筛查策略的成本（效益）进行了估算。每个儿童进行SCID检测的成本估计为6.36欧元。筛查呈阳性结果后的诊断成本估计因最终诊断而异，每个儿童在985欧元至8561欧元之间。成本效益比从T细胞受体切除环（TREC）≤6拷贝/打孔的筛查策略的每质量调整生命年41300欧元到TREC≤10拷贝/打孔的临界值筛查策略的44100欧元不等。基于实际数据的分析导致成本更高，因此与基于假设数据的分析相比，成本效益估计更不理想，这表明需要用实际数据验证模型假设。不同筛查策略的比较表明，转诊数量较少的策略，例如通过区分紧急转诊和不太紧急的转诊，从经济角度来看是有利的。
