Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.
Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Clin Immunol. 2020 Apr;213:108359. doi: 10.1016/j.clim.2020.108359. Epub 2020 Feb 5.
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.
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.
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.
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.
对于原发性免疫缺陷病（PID）患者，新的、创新的、昂贵的诊断方法需要事先了解其潜在的成本节约和对个体患者的附加值。因此，高质量、可比的经济评估至关重要，以便做出明智的决策。因此，本综述的目的是全面概述原发性免疫缺陷疾病早期诊断的现有成本研究和潜在成本节约。
在 PubMed 中进行了文献检索，并纳入了涉及 PID 领域任何形式成本研究的研究。在纳入的研究中，提取了研究特征、成本参数和早期诊断的收益，并分别在单独的表格中进行了概述。
符合纳入标准的 22 项研究被纳入本综述。这些论文根据其主题进行了分类：严重联合免疫缺陷症（SCID）的新生儿筛查、Ig 替代疗法以及报告一般或特定 PID 成本的研究。在这些分组内和分组之间，报告的成本特征存在变异性。在报告诊断前后成本节约的研究中，每位患者的总成本节约范围为 6500 至 108463 美元。
本文献综述表明，无论 PID 的哪个方面得到研究，在几乎所有情况下，早期诊断都能减少医疗保健的消耗，并为 PID 患者带来更好的健康结果。我们发现 PID 患者经济评估的成本特征存在相当大的变异性，这阻碍了结果的可比性。需要做出更多努力来创建统一性并定义 PID 领域经济评估中的成本参数，从而促进进一步的前瞻性研究，以广泛评估早期诊断的收益。
