下一代测序（NGS）方法在、、能力验证样本上的性能优于或等同于非 NGS 方法。

Next-Generation Sequencing (NGS) Methods Show Superior or Equivalent Performance to Non-NGS Methods on , , and Proficiency Testing Samples.

机构信息

From the Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia (Dr Surrey) Peoria Tazewell Pathology Group, Peoria, Illinois (Dr Oakley); the Department of Pathology, University of North Carolina, Chapel Hill (Dr Merker); Biostatistics (Mr Long) and Proficiency Testing (Ms Vasalos), College of American Pathologists, Northfield, Illinois; Office of the Director, The Joint Pathology Center, Silver Spring, Maryland (Dr Moncur); and the Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts (Dr Kim).

出版信息

Arch Pathol Lab Med. 2019 Aug;143(8):980-984. doi: 10.5858/arpa.2018-0394-CP. Epub 2019 Mar 13.

DOI:10.5858/arpa.2018-0394-CP

PMID:30865489

Abstract

CONTEXT.—: There has been a rapid expansion of next-generation sequencing (NGS)-based assays for the detection of somatic variants in solid tumors. However, limited data are available regarding the comparative performance of NGS and non-NGS assays using standardized samples across a large number of laboratories.

OBJECTIVE.—: To compare the performance of NGS and non-NGS assays using well-characterized proficiency testing samples provided by the College of American Pathologists (CAP) Molecular Oncology Committee. A secondary goal was to compare the use of preanalytic and postanalytic practices.

DESIGN.—: A total of 17 343 responses were obtained from participants in the , , , and the Multigene Tumor Panel surveys across 84 different proficiency testing samples interrogating 16 variants and 3 wild-type sequences. Performance and preanalytic/postanalytic practices were analyzed by method.

RESULTS.—: While both NGS and non-NGS achieved an acceptable response rate of greater than 95%, the overall performance of NGS methods was significantly better than that of non-NGS methods for the identification of variants in (overall 97.8% versus 95.6% acceptable responses, = .001) and (overall 98.5% versus 97.3%, = .01) and was similar for (overall 98.8% and 97.6%, = .10). There were specific variant differences, but in all discrepant cases, NGS methods outperformed non-NGS methods. NGS laboratories also more consistently used preanalytic and postanalytic practices suggested by the CAP checklist requirements than non-NGS laboratories.

CONCLUSIONS.—: The overall analytic performance of both methods was excellent. For specific and variants, NGS outperformed non-NGS methods and NGS laboratories report superior adherence to suggested laboratory practices.

摘要

背景

下一代测序（NGS）技术在检测实体瘤体细胞变异方面得到了快速发展。然而，在大量实验室中，使用标准化样本比较 NGS 和非 NGS 检测方法的性能的相关数据有限。

目的

使用美国病理学家学会（CAP）分子肿瘤委员会提供的经过充分验证的能力验证样本比较 NGS 和非 NGS 检测方法的性能。次要目标是比较分析前和分析后的实践。

设计

共有 17343 名参与者参与了、、以及多基因肿瘤面板调查，共涉及 84 个不同的能力验证样本，检测了 16 个变体和 3 个野生型序列。通过方法分析性能和分析前/后实践。

结果

虽然 NGS 和非 NGS 的应答率都超过了 95%，但 NGS 方法在识别变体方面的总体性能明显优于非 NGS 方法，包括在（总体 97.8%的可接受应答率与 95.6%， =.001）和（总体 98.5%与 97.3%， =.01）以及（总体 98.8%与 97.6%， =.10）。虽然存在特定的变异差异，但在所有不一致的情况下，NGS 方法的性能都优于非 NGS 方法。NGS 实验室也比非 NGS 实验室更一致地使用 CAP 清单要求建议的分析前和分析后实践。