PO.CL09.01 · 临床研究

Leveraging a real-world clinicogenomic database for post-sequencing quality assessment in solid tumor comprehensive genomic profiling (CGP)

海报缩略图:Leveraging a real-world clinicogenomic database for post-sequencing quality assessment in solid tumor comprehensive genomic profiling (CGP)
编号 5356 展板 24 时间 4/21 09:00–12:00 区域 Section 46 主讲 Erin Newburn
分会场 Precision Oncology and Real World Data
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作者与单位

Erin N. Newburn1, Rebecca A. Previs1, Michelle F. Green1, Kyle C. Strickland1, Heidi Ko1, Taylor Jensen2, Eric Severson1, Hardik Parikh3, Maria-Fernanda Senosain3, Jie An1, Erik Van Roey3, Daniel Metzger1, R.J. Seager3, Mark Sausen4, Jennifer Jackson4, Kenneth Valkenburg4, Brian Caveney5, Marcia Eisenberg5, Shakti Ramkissoon1

1Labcorp, Durham, NC,2Labcorp, Fuquay-Varina, NC,3OmniSeq, LLC, Buffalo, NY,4PGDx, Baltimore, MD,5Labcorp, Burlington, NC

摘要 Abstract

The quantity and integrity of DNA and RNA extracted from formalin-fixed paraffin-embedded (FFPE) tumor specimens can vary significantly due to factors such as block age, fixation conditions, protein crosslinking, and the presence of chemical inhibitors. Over a decade of research has demonstrated that, with optimized pre- and post-analytical workflows, FFPE samples can serve as reliable input material for both clinical and research-based next-generation sequencing (NGS) applications. Certain tumor types present additional challenges for nucleic acid extraction due to their biological characteristics, such as high metabolic activity and elevated nuclease levels. To evaluate sequencing quality across diverse tumor tissue types, we analyzed post-sequencing metrics from clinical tests performed over a 12-month period using the OmniSeq INSIGHT test for CGP. The cohort included 8,645 solid tumor samples representing 19 distinct cancer types. The most frequently profiled tumors were lung (N=3,984), colorectal (N=1,211), breast (N=578), pancreatic (N=398), prostate (N=331), uterine (N=252), esophageal (N=232), and head and neck (N=221). Key post-sequencing quality metrics that assess sequencing coverage and on target mapping were evaluated. Across all indications, high-quality data metrics were consistently achieved for both DNA and RNA, underscoring the robustness of the workflow regardless of tumor type. These findings support the scalability and reliability of CGP using FFPE tissue across a broad spectrum of solid tumors, reinforcing its utility in clinical oncology and research applications for high-quality genomic reporting.
利益披露 Disclosure
E. N. Newburn, None.. R. A. Previs, None.. J. An, None.. D. Metzger, None.

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