TORONTONov. 15, 2022 – Geneseeq Technology Inc. (“Geneseeq”), a company focused on advancing cancer genomic profiling through cutting-edge next-generation based technologies, today announced high-performing results from a lung cancer study testing the company’s early cancer detection model through program DECIPHER (Detecting Early Cancer by Inspecting ctDNA Features). The study is published in the American Journal of Respiratory and Critical Care Medicine.

Being the leading cause of cancer-related death in the world, lung cancer has been difficult to diagnose early in current standard of care settings as most patients are diagnosed at advanced stages, which greatly impacts survival outcomes. Geneseeq has extensively evaluated a multi-dimensional, early cancer detection model based on cfDNA fragmentomics and achieved consistent and excellent performance. In this study, Geneseeq and Jiangsu Cancer Hospital demonstrated the high predictability, stability, and robustness of this model in an early-stage lung cancer population, including patients with extremely low circulating tumor DNA (ctDNA) levels.

The study evaluated plasma cfDNA from a training cohort of 350 non-cancer and 432 cancer participants using shallow whole-genome sequencing (WGS). Multiple cfDNA fragmentomics features, including fragment size coverage (FSC), fragment size distribution (FSD), 6bp end motif (EDM), 6bp breakpoint motif (BPM), and copy number variation (CNV) were tested in the training cohort to enhance the machine learning model;it was then evaluated in three independent cohorts.

The model showed a high area under the curve (AUC) of 0.9840.987, and 0.974 for differentiating lung cancer patients from healthy individuals in the three validation cohorts. The model’s robustness, repeatability and reproducibility were also tested, yielding great performance results. Most notably, the model can identify both squamous cell carcinoma and adenocarcinoma with a 93.3% and 87.0% sensitivity, at a 95.0% specificity. ” It is also sensitive to early pathological features, with a sensitivity of 83.2% at 95.0% specificity for stage I lung cancer, and a sensitivity of 85.0% for tumors less than 10mm.” The model maintained a 75.0% sensitivity in identifying lung cancer patients with low ctDNA (maximum variant allelic fraction of 0.05%) at 0.5X WGS sequencing coverage.

“Geneseeq has been focused on precisely early cancer screening since 2019. The remarkable performance of our early cancer detection model has given us confidence in its real-world and clinical application”, says Dr. Hua Bao, author and the director of Geneseeq Research Institute.

With a series of DECIPHER early cancer detection studies published in high-impact journals, Geneseeq also announced the progress of a large-cohort, prospective, early cancer screening clinical study named “Jinling Cohort” at the Nanjing headquarters earlier this year. The clinical study is jointly led by the Nanjing public health system, Nanjing Medical University and Geneseeq. The study will recruit 100,000 participants, providing them with a sensitive yet cost-effective early screening test.

About Geneseeq

Geneseeq is a research-driven company that provides cutting-edge genomic profiling technology to accelerate precision cancer care. Our Canadian and Chinese headquarters focus on clinical genetic testing and translational research, covering all cancer and sample types.

Geneseeq Laboratory Information

Geneseeq’c clinical laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA), ISO 15189:2012, and accredited by the College of American Pathologists.