Hirschhorn Julie W, Babady N Esther, Bateman Allen, Blankenship Heather M, Bard Jennifer Dien, Florek Kelsey, Larkin Paige M K, Rowlinson Marie-Claire, Wroblewski Kelly, Wolk Donna M
The SARS-CoV-2 Whole Genome Sequencing Working Group of the Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina; Diagnostic Medicine Institute, Geisinger, Danville, Pennsylvania; Geisinger Commonwealth School of Medicine, Scranton, Pennsylvania.
The SARS-CoV-2 Whole Genome Sequencing Working Group of the Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine and Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
J Mol Diagn. 2025 Jan;27(1):12-24. doi: 10.1016/j.jmoldx.2024.09.005. Epub 2024 Oct 21.
Next-generation sequencing (NGS) has applications in research, epidemiology, oncology, and infectious disease diagnostics. Wide variability exists in NGS wet laboratory techniques and dry laboratory analytical considerations. Thus, many questions remain unanswered when NGS methods are implemented in laboratories for infectious disease testing. Although this review is not intended to answer all questions, the most pressing questions from a public health and clinical hospital-based laboratory perspective will be addressed. The authors of this review are laboratory professionals who perform and interpret severe acute respiratory syndrome coronavirus 2 NGS results. Considerations for pre-analytical, analytical, and postanalytical NGS will be explored. This review highlights challenges for molecular laboratory professionals considering adopting or expanding NGS methods.
下一代测序(NGS)在研究、流行病学、肿瘤学和传染病诊断中均有应用。NGS的湿实验室技术和干实验室分析考量存在很大差异。因此,当在实验室中采用NGS方法进行传染病检测时,许多问题仍未得到解答。尽管本综述并非旨在回答所有问题,但将从公共卫生和临床医院实验室的角度探讨最紧迫的问题。本综述的作者是从事严重急性呼吸综合征冠状病毒2 NGS结果检测和解读的实验室专业人员。将探讨NGS分析前、分析中和分析后的注意事项。本综述强调了分子实验室专业人员在考虑采用或扩展NGS方法时所面临的挑战。