临床全基因组测序 (WGS) 已被证明可为癌症儿童带来潜在益处，并改变高危患者群体的治疗。目前尚不清楚向每个疑似患有癌症的儿童提供全基因组测序是否可以改变患者管理。我们收集了来自两个英国单位的 281 名儿童（282 个肿瘤）的 WGS 变异识别以及临床和诊断信息（n = 152 名来自血液学中心，n = 130 名来自实体瘤中心），其中 WGS 已成为常规测试。我们的主要发现是，WGS 独有的变异改变了大约 7%（282 例中的 20 例）病例的治疗，同时在 108 例病例中提供了超出标准护理分子检测的额外疾病相关发现，其中 83 例（29%） ）案例。此外，WGS 忠实地再现了每一项护理标准分子测试 (n = 738)，并揭示了一些以前未知的儿童肿瘤基因组特征。我们证明，全基因组测序可以作为疑似癌症儿童常规临床护理的一部分，并可以通过提供意想不到的基因组见解来改变临床管理。我们的经验将 WGS 描述为一种对常规实践有临床影响的检测方法，为检测巩固和提供分子信息患者护理提供了机会。© 2024。作者。

Clinical whole-genome sequencing (WGS) has been shown to deliver potential benefits to children with cancer and to alter treatment in high-risk patient groups. It remains unknown whether offering WGS to every child with suspected cancer can change patient management. We collected WGS variant calls and clinical and diagnostic information from 281 children (282 tumors) across two English units (n = 152 from a hematology center, n = 130 from a solid tumor center) where WGS had become a routine test. Our key finding was that variants uniquely attributable to WGS changed the management in ~7% (20 out of 282) of cases while providing additional disease-relevant findings, beyond standard-of-care molecular tests, in 108 instances for 83 (29%) cases. Furthermore, WGS faithfully reproduced every standard-of-care molecular test (n = 738) and revealed several previously unknown genomic features of childhood tumors. We show that WGS can be delivered as part of routine clinical care to children with suspected cancer and can change clinical management by delivering unexpected genomic insights. Our experience portrays WGS as a clinically impactful assay for routine practice, providing opportunities for assay consolidation and for delivery of molecularly informed patient care.© 2024. The Author(s).