Key Findings

In a real-world cohort of nearly 2,000 people at elevated risk for pancreatic cancer (for example, due to diabetes or obesity) and followed for up to two years, Geneseeq’s cfDNA blood test:

• Detected cancer early: Identified 75% (6 of 8) pancreatic ductal adenocarcinoma (PDAC) cases present at enrollment, including every Stage 0 cases and additional Stage I/II cases.
• Provided a lead time advantage: Signaled cancer up to 10 months earlier (median 7.5 months) than imaging could detect it.
• Showed high accuracy: Achieved 97.9% specificity and a 99.9% negative predictive value, indicating very few false positives.
• Aided cyst risk stratification: Correctly flagged a high-risk precancerous lesion (IPMN) while ruling out a low-risk cyst (SCN).
• Outperformed the standard biomarker: The commonly used blood biomarker, CA19-9, detected only 12.5% (1/8) PDAC cases at enrollment and generated far more false positives.

Why This Matters

Pancreatic cancer is among the deadliest cancers, largely because it is often diagnosed too late for effective treatment. Detecting it earlier can make a life-saving difference.

“Our prospective validation in a real-world elevated-risk population shows how cfDNA blood testing could transform pancreatic cancer screening,” said Dr. Hua Bao, Geneseeq’s VP of R&D. “By identifying disease months before imaging, we could shift diagnoses to much earlier, more treatable stages.”

Earlier this year, Geneseeq also contributed to another cfDNA-based pancreatic cancer early detection study published in the Journal of Clinical Oncology.

About Geneseeq

Geneseeq Technology Inc. is a research-driven global leader in precision oncology, pioneering next-generation sequencing (NGS) technologies to transform cancer detection, diagnosis, and treatment. Its portfolio spans comprehensive genomic profiling across tumor types, cancer-specific diagnostic panels, minimal residual disease (MRD) monitoring, and multi-cancer early detection (MCED) solutions.

The company’s flagship GeneseeqPrime® tumor profiling assay is now FDA-cleared, CE-IVD marked, and NMPA-approved, ensuring accessibility across major jurisdictions. In addition, four other Geneseeq panels have received CE-IVD marking, and its MCED assay CanScan® has been granted FDA Breakthrough Device Designation.

Headquartered in Canada and China, Geneseeq operates CAP- and CLIA-certified laboratories and partners with hospitals, academic institutions, and pharmaceutical companies worldwide to advance precision medicine and accelerate biomarker-driven therapeutic development.

The post Geneseeq Validates Cell-free DNA Blood Test for Early Detection of Pancreatic Cancer in a Prospective Study appeared first on Geneseeq Technology Inc. | A Precision Oncology Company.

Toronto, Canada – May 27, 2025 – Geneseeq is proud to announce 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. 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.

Innovation Behind CanScan^®

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 MERCURY^TM 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.

About Geneseeq

Geneseeq Technology Inc. is a research-driven global leader in precision oncology, pioneering next-generation sequencing (NGS) technologies to transform cancer detection, diagnosis, and treatment. Its portfolio includes comprehensive genomic profiling for all tumor types, cancer-specific panels, minimal residual disease (MRD) monitoring, and multi-cancer early detection (MCED) solutions. Geneseeq has achieved several key regulatory milestones, including CE-IVD certification for its solid tumor and hematologic cancer panels, CE mark and FDA Breakthrough Device Designation for its MCED test, CanScan^®, and NMPA approval for two NGS-based IVD kits in lung cancer, including tumor mutational burden (TMB) detection. With headquarters in Canada and China, Geneseeq operates CAP- and CLIA-certified laboratories and partners with hospitals, research institutions, and pharmaceutical companies worldwide to advance precision medicine.

The post Geneseeq’s Breakthrough Cancer Detection Blood Test Published in Nature Medicine appeared first on Geneseeq Technology Inc. | A Precision Oncology Company.

The studies span multiple tumor types—including pancreatic, biliary, renal, gastric, lung, ovarian, and esophageal cancers—and collectively demonstrate the power of Geneseeq’s multi-omics platform, integrating whole-genome sequencing, fragmentomics, and AI-driven modeling for non-invasive cancer detection. In addition, SCENT-2 trial study, which was selected for oral presentation (Abstract #7006), evaluated the combination of sintilimab and chidamide followed by P-GemOx in treatment-naïve ENKTL patients using Geneseeq Hemasalus panel.

All studies were conducted in collaboration with leading cancer centers and reflect Geneseeq’s mission to transform oncology through integrated genomics and AI-powered innovation.

Featured Presentations at ASCO 2025:

About Geneseeq:

Geneseeq Technology Inc. (Geneseeq) is a research-driven leader in precision oncology, utilizing cutting-edge next-generation sequencing (NGS) technologies to advance cancer care. The company provides comprehensive genomic profiling solutions for all tumor types, including pan-cancer and cancer-specific panels, alongside cutting-edge tools for minimal residual disease (MRD) monitoring and multi-cancer early detection (MCED). Geneseeq has reached key regulatory milestones to date, including CE-IVD certification for its solid tumor and hematologic cancer panels, and FDA Breakthrough Device Designation for its MCED test, CanScan®. The company has also received approval from the National Medical Products Administration (NMPA) for GeneseeqPrime, designed for tumor mutational burden (TMB) detection in lung cancer.

The post Geneseeq Showcases Cutting-Edge Liquid Biopsy Research Across Multiple Cancer Types at ASCO 2025 appeared first on Geneseeq Technology Inc. | A Precision Oncology Company.

Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies, largely because it is rarely caught early and diagnosed too late for curative treatment. The five-year survival rate remains around 12%, and currently tools-such as imaging and CA19-9 blood test-often miss early-stage cases. There is currently no recommended population-wide screening method for PDAC.

The new test model from Geneseeq analyzes cfDNA fragmentomics-specific patterns of DNA fragments shed into the bloodstream by cancer cells. By applying advanced machine learning algorithm to shallow whole-genome sequencing data, the test can detect subtle genomic and epigenetic changes associated with early-stage PDAC.

Key clinical results:

• Achieved 93.4% sensitivity and 95.2% specificity in the training cohort
• Reached 90.91-97.3% sensitivity and 92.8-94.5% specificity in multiple validation cohorts
• Demonstrated strong performance even in early-state cancers
• Outperformed CA19-9, especially in individuals with normal bilirubin levels

“Our cfDNA fragmentomics model offers a practical, highly accurate, and non-invasive option for detecting pancreatic cancer early,” said Dr. Hua Bao, VP of R&D at Geneseeq. “It could support earlier identification of at-risk individuals, allowing timely clinical follow-up and potentially improving outcomes.”

What makes this approach especially promising is its clinical feasibility. The test uses low-coverage sequencing (as little as 0.5×), making it cost-effective and suitable for broader population screening. The test also showed high stability, even with lower DNA sequencing data, and could be used to monitor high-risk patients or suspicious pancreatic lesions. The researchers also estimated that applying this test at the population level could reduce pancreatic cancer mortality by up to 27%, by catching more cancers at a treatable stage.

Further research is underway to refine the model’s application in screening programs and to validate its effectiveness in more diverse populations. Clinicians may soon have a powerful new tool to help combat one of the hardest-to-detect cancers.

About Geneseeq

Geneseeq Technology Inc. (Geneseeq) is a research-driven leader in precision oncology, utilizing cutting-edge next-generation sequencing (NGS) technologies to advance cancer care. The company provides comprehensive genomic profiling solutions for all tumor types, including pan-cancer and cancer-specific panels, alongside cutting-edge tools for minimal residual disease (MRD) monitoring and multi-cancer early detection (MCED). Geneseeq has reached key regulatory milestones to date, including CE-IVD certification for its solid tumor and hematologic cancer panels, and FDA Breakthrough Device Designation for its MCED test, CanScan®. The company has also received approval from the National Medical Products Administration (NMPA) for GeneseeqPrime, designed for tumor mutational burden (TMB) detection in lung cancer.

The post Geneseeq Unveils Groundbreaking Blood Test for Early Detection of Pancreatic Cancer appeared first on Geneseeq Technology Inc. | A Precision Oncology Company.

The markings will enable Geneseeq to expand its global business operations and establish new partnerships in the European market.

The MRD detection kit (Shielding Ultra) employs ultra-deep sequencing technology ATG-SEQ to detect low amounts of circulating tumor DNA (ctDNA) in the peripheral blood post-surgical intervention.

For early cancer detection, the in vitro diagnostic kit uses highly sensitive next-generation sequencing-based technology MERCURY to assess multi-omics features of circulating free DNA (cfDNA) and detect tumorigenesis in health population.

In 2022, the council of the European Union has decided to improve cancer screening and strengthening cancer prevention through early detection¹.

“Obtaining the CE marks for both our MRD and MCED kits is an important milestone for Geneseeq to bring personalized liquid biopsy tests to patients worldwide,” said Dr. Xue Wu, Geneseeq Technology CEO.

About Geneseeq

Geneseeq is a research-driven company that focus on clinical genetic testing and translational research, covering all cancers and sample types. Geneseeq genomic testing services offer both pan-cancer panels analyzing 400+ genes and cancer-type specific gene panels to help match a patient to the optimal treatment. Last year, Geneseeq announced the progress of a large-cohort, prospective, early cancer screening clinical study named “Jinling Cohort” at the Nanjing headquarters earlier. The study will recruit 100,000 participants, providing them with a sensitive yet cost-effective early screening test.

¹https://data.consilium.europa.eu/doc/document/ST-14770-2022-INIT/en/pdf

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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 0.984, 0.987, 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.

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

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