Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Genome Informatics, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; Dartmouth Cancer Center, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire.
J Mol Diagn. 2024 Sep;26(9):815-824. doi: 10.1016/j.jmoldx.2024.05.013. Epub 2024 Jul 6.
Next-generation sequencing-based genomic testing is standard of care for tumor workflows. However, its application across different institutions continues to be challenging given the diversity of needs and resource availability among different institutions globally. Moreover, the use of a variety of different panels, including those from a few individual genes to those involving hundreds of genes, results in a relatively skewed distribution of care for patients. It is imperative to obtain a higher level of standardization without having to be restricted to specific kits or requiring repeated validations, which are generally expensive. We show the validation and clinical implementation of the DH-CancerSeq assay, a tumor-only whole-exome-based sequencing assay with integrated informatics, while providing similar input requirements, sensitivity, and specificity to a previously validated targeted gene panel and maintaining similar turnaround times for patient care.
基于下一代测序的基因组检测是肿瘤工作流程的标准护理。然而，由于不同机构的需求和资源可用性存在差异，其在不同机构的应用仍然具有挑战性。此外，由于使用了各种不同的面板，包括从少数个别基因到涉及数百个基因的面板，导致患者的护理分布相对偏颇。在不局限于特定试剂盒或需要重复验证（通常昂贵）的情况下，获得更高水平的标准化是至关重要的。我们展示了 DH-CancerSeq 检测的验证和临床实施，这是一种仅肿瘤的基于全外显子组的测序检测，具有集成的信息学，同时提供与之前验证的靶向基因面板相似的输入要求、敏感性和特异性，并保持类似的患者护理周转时间。
