Many cancer patients show no symptoms at early stages and receive diagnoses at advanced stages, which can drastically attenuate treatment effectiveness and decrease their quality of life. Healthcare systems implement routine cancer screening programs as the standard of care. However, most methods display detection limits and restricted uptake in clinical practices. Geneseeq launched an early cancer detection research program DECIPHER (Detecting Early Cancer by Inspecting ctDNA features) in 2019 to develop a sensitive and affordable cfDNA-based assay.
Next-generation sequencing (NGS) technologies examine cell-free DNA (cfDNA) as a cancer biomarker, which can be detected in a small volume of a patient’s blood sample, has gained popularity over recent years due to its minimally invasive nature.
The program explored the clinical utility of cfDNA fragmentomic features in early screening settings for various cancers including colorectal, lung, and liver cancer. The company’s R&D team monitors cfDNA fragmentomic features and develops machine learning algorithms to build an effective and dynamic model for detecting circulating tumor DNA in patient blood.
In the most recent study, the early detection assay was optimized in a multi-cancer cohort of 1,214 participants, including 381 primary liver cancer patients, 298 colorectal cancer patients, 292 lung cancer patients, and 243 healthy volunteers. Most of the patients from this cohort were early-stage patients (stage 0, n=34; stage I, n=799). The detection model showed high performance with an Area Under Curve (AUC) of 0.983 and a sensitivity of 95.5% at 95% specificity.
In fact, the detection model has been consistently yielding a high AUC of over 0.98 across various studies in the early detection program, indicating the assay’s promising ability at distinguishing between cancer positive and negative patients.
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.