本研究的目的是评估5类儿童和成人血液肿瘤中下一代测序（NGS）的临床影响和经济成本。NGS处方从26个实验室中收集，其技术和报告方法各不相同（全面或仅明显指标）。由当地调查员报告的影响被定义为：（1）有意义的突变，（2）具有预后和/或适应治疗价值的突变，和/或（3）有助于病名细化的突变。在4个实验室进行了微成本研究，确定了每个操作步骤所需的资源类型和数量。影响分析使用了3961名患者的个体检查处方，其中对髓系疾病（占三分之二）和主要是成熟B细胞的淋巴系疾病（占三分之一）的管理进行了分析。有73.4％的处方被认为对管理产生了影响：对34.9％的处方有助于评估预后风险，并对19.6％的处方需要调整治疗（可行）；然而，对于18.9％的处方，没有立即的个体治疗影响。受限制的成熟淋巴系引物组合的平均每个样本成本为191欧元。捕获引物组合的成本从369欧元到513欧元不等。单位成本从每kb测序的0.5欧元到5.7欧元变化，从每个靶基因/热点测序的3.6欧元到11.3欧元变化，从每个靶基因/热点报告的4.3欧元到73.8欧元变化。引物组合的可比成本为每kb 5-8欧元，每个靶基因/热点测序和报告费用为10.5-14.7欧元，展示了与捕获策略相比具有更大信息性和灵活性的可比成本。可持续的精准医学资金需求需要透明地讨论其对路径和财务方面的影响。版权所有© 2023年作者。由 Wolters Kluwer Health, Inc. 代表欧洲血液学协会出版。

The objective of this study was to assess the clinical impact and financial costs of next-generation sequencing (NGS) in 5 categories of pediatric and adult hematological cancers. NGS prescriptions were prospectively collected from 26 laboratories, with varied technical and reporting practice (all or only significant targets). Impact was defined by the identification of (1) an actionable mutation, (2) a mutation with prognostic and/or theranostic value, and/or (3) a mutation allowing nosological refinement, reported by local investigators. A microcosting study was undertaken in 4 laboratories, identifying the types and volumes of resources required for each procedural step. Individual index prescriptions for 3961 patients were available for impact analysis on the management of myeloid disorders (two thirds) and, mainly mature B, lymphoid disorders (one third). NGS results were considered to impact the management for 73.4% of prescriptions: useful for evaluation of prognostic risk in 34.9% and necessary for treatment adaptation (actionable) in 19.6%, but having no immediate individual therapeutic impact in 18.9%. The average overall cost per sample was 191 € for the restricted mature lymphoid amplicon panel. Capture panel costs varied from 369 € to 513 €. Unit costs varied from 0.5 € to 5.7 € per kb sequenced, from 3.6 € to 11.3 € per target gene/hot-spot sequenced and from 4.3 € to 73.8 € per target gene/hot-spot reported. Comparable costs for the Amplicon panels were 5-8 € per kb and 10.5-14.7 € per target gene/hot-spot sequenced and reported, demonstrating comparable costs with greater informativity/flexibility for capture strategies. Sustainable funding of precision medicine requires a transparent discussion of its impact on care pathways and its financial aspects.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.