Optimization criteria for ordering myeloid neoplasm next-generation sequencing

EJHaem Pub Date : 2024-10-23 DOI:10.1002/jha2.1036
Savanah D. Gisriel, John G. Howe, Christopher A. Tormey, Richard Torres, Karl M. Hager, Henry M. Rinder, Alexa J. Siddon
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Abstract

Introduction

Myeloid neoplasms (MNs) frequently harbor pathogenic mutations not detected by karyotyping and fluorescence in situ hybridization; hence, next-generation sequencing (NGS) is necessary for diagnosis, risk stratification, and therapy. If, however, NGS is not clinically indicated but still performed, the results may promote futile avenues of investigation, heighten patient distress, and increase cost.

Methods

We created criteria to approve NGS testing for MN (MN-NGS) with the goal of maximizing actionable results. These actionable results include making a new MN diagnosis, characterizing a MN with baseline mutational status, and altering treatment plans. Approval criteria included clinical suspicion of new, relapsed, or worsening disease and end-of-induction chemotherapy. Cancellation criteria included the suspicion of non-myeloid disease only, no suspicion of progression of a known MN, no evidence for recurrence post-transplant, a diagnosis of chronic myeloid leukemia, and cases using blood when a concurrent bone marrow NGS is being performed. We applied these criteria to NGS tests ordered at our institution between August and December 2018 and determined whether any tests meeting our cancelation criteria yielded actionable results.

Results

Consecutive MN-NGS orders (n = 174) were retrospectively categorized as appropriate (Group A, n = 115), inappropriate (Group B, n = 29), and appropriately canceled (group C, n = 30). Seventy-five of the 115 (65%) Group A tests and none of the 29 (0%) Group B tests yielded actionable results (p < 0.0001).

Conclusion

Approximately one third (59/174) of MN-NGS test orders can be safely canceled using these criteria, which would result in $150,370 of Centers for Medicare and Medicaid Services-reimbursed savings annually.

Abstract Image

骨髓肿瘤新一代测序的优化标准。
髓系肿瘤(MNs)经常携带核型和荧光原位杂交检测不到的致病性突变;因此,下一代测序(NGS)对于诊断、风险分层和治疗是必要的。然而,如果NGS没有临床指征,但仍然进行,结果可能会促进徒劳的调查途径,增加患者的痛苦,并增加成本。方法:我们创建了批准NGS检测MN (MN-NGS)的标准,目标是最大化可操作的结果。这些可操作的结果包括做出新的MN诊断,具有基线突变状态的MN特征,以及改变治疗计划。批准标准包括临床怀疑新发、复发或恶化的疾病和诱导结束化疗。取消标准包括仅怀疑非髓系疾病,未怀疑已知MN进展,移植后无复发证据,诊断为慢性髓系白血病,以及同时进行骨髓NGS时使用血液的病例。我们将这些标准应用于2018年8月至12月期间在我们机构订购的NGS测试,并确定是否有符合我们取消标准的测试产生了可操作的结果。结果:连续MN-NGS订单(n = 174)回顾性分类为适当(A组,n = 115)、不适当(B组,n = 29)和适当取消(C组,n = 30)。115项A组检测中有75项(65%)产生了可操作的结果,而29项B组检测中没有一项(0%)产生了可操作的结果(p结论:使用这些标准可以安全地取消大约三分之一(59/174)的MN-NGS检测订单,这将导致每年为医疗保险和医疗补助服务中心节省150,370美元的报销费用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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