BACKGROUND New, innovative, costly diagnostic methods for patients with primary immunodeficiencies (PID) demand upfront insight into their potential cost savings and added value for individual patients. As such, high quality, comparable economic evaluations are of utmost importance to enable informed decisions. The objective of this review was therefore to create an extensive overview of current costing studies and potential cost savings of early diagnosis in primary immunodeficiency disease. METHODS A literature search in PubMed was conducted and studies involving any form of costing study in the field of PIDs were included. Of the included studies, study characteristics, cost parameters and benefits of early diagnosis were extracted and outlined in separate tables. RESULTS Twenty two studies met the inclusion criteria and were included in the review. The papers were categorized according to their subject: neonatal screening for severe combined immunodeficiency (SCID), Ig replacement therapies and studies reporting on costs of general or specific PIDs. Within and between these groups variability in reported costing characteristics was observed. In studies that reported cost savings pre- and post-diagnosis, cost savings ranged from 6500 to 108,463 USD of total costs per patient. CONCLUSION This literature review shows that, regardless of what aspect of PIDs has been studied, in nearly all cases early diagnosis reduces health care consumption and leads to better health outcomes for patients with PIDs. We found considerable variability in costing characteristics of economic evaluations of PID patients, which hampers the comparability of outcomes. More effort is needed to create uniformity and define cost parameters in economic evaluations in the field of PIDs, facilitating further prospective research to extensively assess the benefits of early diagnosis.

中文翻译：

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原发性免疫缺陷疾病的早期诊断成本和影响：文献综述。

背景技术用于具有原发性免疫缺陷（PID）的患者的新的，创新的，昂贵的诊断方法需要对其潜在的成本节省和单个患者的增值的前瞻性认识。因此，高质量，可比较的经济评估对于做出明智的决定至关重要。因此，本综述的目的是对当前的成本研究以及原发性免疫缺陷疾病早期诊断的潜在成本节省进行全面概述。方法在PubMed中进行了文献检索，并包括了涉及PID领域中任何形式的成本核算研究的研究。在纳入的研究中，研究特征，成本参数和早期诊断的益处被提取出来，并在单独的表格中列出。结果22项研究符合纳入标准，并被纳入评价。这些论文根据其主题进行分类：新生儿筛查严重联合免疫缺陷症（SCID），Ig替代疗法以及报告一般或特定PID费用的研究。在这些组内和之间，观察到报告的成本核算特征存在差异。在报告了诊断前后成本节省的研究中，每位患者的总成本节省范围为6500至108,463美元。结论这篇文献综述表明，无论研究了PID的哪个方面，几乎在所有情况下，早期诊断都减少了医疗保健的消耗，并为PID的患者带来了更好的健康结果。我们发现PID患者的经济评估的成本特征存在很大差异，这妨碍了结果的可比性。在PID领域的经济评估中，需要付出更多的努力来创建统一性并定义成本参数，以促进进一步的前瞻性研究以广泛评估早期诊断的益处。