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).
Arch Pathol Lab Med. 2019 Aug;143(8):980-984. doi: 10.5858/arpa.2018-0394-CP. Epub 2019 Mar 13.
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.
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。
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。
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。
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。
两种方法的整体分析性能都非常出色。对于特定的 和 变体，NGS 优于非 NGS 方法，并且 NGS 实验室报告了更好地遵守建议的实验室实践。
