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Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

优化标准来订购骨髓瘤下一代测序的优化标准.

Savanah D Gisriel^1,2, John G Howe², Christopher A Tormey²

¹Department of Pathology Yale School of Medicine New Haven Connecticut USA.

|December 18, 2024

概括

实施骨髓瘤 (MN) 下一代测序 (NGS) 标准可以安全地取消大约三分之一的测试. 这一策略最大限度地提高了可行的结果,并减少了在MN诊断和治疗中不必要的成本.

关键词:

在 MDS MDS 中.骨髓状瘤是什么样子的这是下一代测序.

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科学领域:

血液学血液学血液学
在瘤学瘤学.
遗传学是一个遗传学.

背景情况:

骨髓瘤 (MNs) 往往需要下一代测序 (NGS) 进行准确的诊断,风险分层和治疗选择,因为常规方法 (如型定型) 可能会错过关键突变.
然而,在没有明确的临床迹象的情况下进行NGS可能会导致不必要的调查,增加患者的痛苦和更高的医疗保健成本.

研究的目的:

开发和验证批准下一代测序 (NGS) 测试在骨髓瘤 (MNs) 的标准,以最大限度地发挥可行的结果.
确定取消不太可能产生临床显著发现的MN-NGS试验的标准.

主要方法:

确立了批准和取消MN-NGS试验的具体标准,重点是对新的,复发或恶化的疾病的临床怀疑,以及诱导末期化疗.
追溯审查了2018年8月至12月期间的174个MN-NGS测试订单,根据开发的标准将其分为适当,不适当和适当取消的组.

主要成果:

在174个MN-NGS订单中,115个是合适的 (A组),29个是不合适的 (B组),30个是适当取消的 (C组).
65%的A组测试获得了可操作的结果,而0%的B组测试产生了可操作的结果 (p < 0.0001).

结论:

大约三分之一 (59/174) 的MN-NGS测试订单可以使用既定的标准安全地取消.
实施这些标准可能会带来显著的年度成本节省,估计为150,370美元的医疗保险和医疗补助服务中心退款.