Geneseeq’s Breakthrough Cancer Detection Blood Test Published in Nature Medicine

On May 28, 2025 Geneseeq reported the publication of results from its large-scale multi-cancer early detection (MCED) study in Nature Medicine, one of the world’s leading peer-reviewed medical journals (Press release, Geneseeq, MAY 28, 2025, View Source [SID1234653457]). The publication presents findings from the DECIPHE-Omnia Study (Detecting Early Cancer by Inspecting ctDNA Features), a landmark effort evaluating CanScan, Geneseeq’s advanced blood-based test for early cancer detection.

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CanScan is a non-invasive blood test powered by AI-driven whole-genome sequencing. It analyzes subtle cancer-specific changes in circulating cell-free DNA (cfDNA) using Geneseeq’s proprietary MERCURYTM Technology. By integrating fragmentomics, genomic, and epigenomic features, the test identifies whether a cancer signal is present and accurately predicts the tissue of origin (TOO). In 2023, CanScan received Breakthrough Device Designation from the U.S. FDA.

A New Way to Catch Cancer Early

Unlike traditional cancer screening tools that are limited to one type of cancer and often involve invasive procedures, CanScan offers a convenient, comprehensive solution: a single blood test that screens for more than a dozen cancers at once.

In the study:

CanScan detected early-stage cancers with high accuracy
Identified cases missed by routine physical exams
Produced a low false-positive rate, helping reduce unnecessary follow-ups
"This study brings us closer to making routine multi-cancer screening a reality," said Dr. Yang Shao, CEO of Geneseeq. "Our vision is a future where a simple blood test can help save lives through earlier diagnosis."

The Landmark DECIPHER-Omnia Study

The DECIPHER-Omnia Study is a multi-phase clinical research program involving more than 8,000 participants to date across three stages:

Test development and training using samples from cancer patients and healthy donors
Independent clinical validation in a separate cohort
A large-scale ongoing screening study in asymptomatic individuals aged 45–75 (the JINLING cohort)
The newly published Nature Medicine paper presents interim findings from over 3,700 participants in the JINLING cohort.

Key Interim Results:

Specificity: 98.1%
Sensitivity: 53.5% across all detected cancers; 62.1% for targeted cancer types
Early-stage detection: 93% of confirmed cases were Stage 0, I, or II
Positive Predictive Value (PPV): 25% — 10 times higher than standard screening (2.2%)
Low false positives: Reduced unnecessary follow-up procedures
Detection of missed cancers: CanScan identified 53.3% of cancers overlooked by standard screening
Looking Ahead

The JINLING cohort study has now successfully completed enrollment of its target 15,000 participants and is currently in the follow-up and data analysis phase. The complete dataset, along with ongoing monitoring, is expected to provide deeper insights into the real-world utility of CanScan for population-level cancer screening.