Veracyte, Inc. (Nasdaq: VCYT) has announced promising new data for its whole-genome sequencing (WGS)-based platform for minimal residual disease (MRD) testing in muscle-invasive bladder cancer (MIBC). The findings, presented at the 40th Annual European Association of Urology Congress (EAU25) in Madrid, demonstrate superior accuracy compared to traditional testing methods and earlier detection than standard imaging.
The data comes from the large, independent, multicenter, interventional TOMBOLA trial (NCT04138628), which enrolled 100 patients with MIBC undergoing standard-of-care neoadjuvant chemotherapy (NAC) and radical cystectomy (RC). The study compared Veracyte's WGS-based MRD testing platform against droplet digital PCR (ddPCR)-based blood testing for detecting circulating tumor DNA (ctDNA) and monitoring disease recurrence.
Superior Specificity with Equivalent Negative Predictive Value
At the 6-month milestone, Veracyte's MRD testing platform demonstrated an equivalent and outstanding negative predictive value (95.9%) compared to ddPCR (96.2%) for cancer recurrence. Notably, the Veracyte platform achieved a significantly higher specificity (88%) than ddPCR (62%), indicating fewer false positive results.
Perhaps most significantly, the Veracyte MRD testing platform detected cancer recurrence a median of 93 days sooner than standard imaging, potentially allowing for earlier intervention and improved patient outcomes.
"Up to half of patients with muscle-invasive bladder cancer experience recurrence within two years of initial treatment, and using ctDNA status to guide oncological treatment would spare some patients from unnecessary treatments," said Lars Dyrskjøt Andersen, Ph.D., professor at Aarhus University in Denmark and principal investigator of the TOMBOLA trial. "Our findings show that Veracyte's whole-genome sequencing approach to MRD testing demonstrates high accuracy and may improve overall clinical utility, compared to ddPCR."
Technology Platform Leverages AI and Whole-Genome Sequencing
Veracyte's MRD testing platform combines whole-genome sequencing with artificial intelligence to detect residual cancer in blood samples. The approach requires less blood and delivers faster results compared to ctDNA testing using bespoke panels.
The platform works by first characterizing the complete set of cancer mutations in a patient's tumor tissue sample and blood to establish a patient-specific genomic signature. It then uses whole-genome sequencing and AI to detect that signature in subsequent blood samples, indicating cancer presence and tracking tumor progression throughout treatment and follow-up care.
"The new data presented at EAU25 reinforce the power of the Veracyte Diagnostics Platform, which is at the core of all of our tests and will now enable us to expand into MRD testing in a clinically meaningful way," said Philip Febbo, M.D., Veracyte's chief scientific officer and chief medical officer.
Clinical Implications for Bladder Cancer Management
MIBC is an aggressive form of bladder cancer with significant recurrence rates. Early detection of recurrence is crucial for timely intervention and improved patient outcomes. In the ongoing TOMBOLA trial, patients who test positive for ctDNA are treated with immunotherapy and followed for clinical response.
The ability to detect recurrence earlier than standard imaging could potentially shift treatment paradigms, allowing for earlier intervention before disease becomes clinically apparent. This approach may be particularly valuable given the aggressive nature of MIBC and its high recurrence rate.
Market Expansion and Future Plans
Veracyte plans to launch its first MRD test for muscle-invasive bladder cancer in the first half of 2026, with additional cancer indications to follow. This expansion builds upon the company's established presence in urologic cancer diagnostics, where its Decipher tests are widely used to guide prognosis and treatment decisions.
The company's Decipher Bladder Genomic Classifier, a 219-gene test developed using RNA whole-transcriptome analysis and machine learning, is already used to classify bladder tumors into five molecular subtypes with distinct clinical implications. Similarly, the Decipher Prostate Genomic Classifier helps inform treatment decisions for prostate cancer patients by providing accurate risk assessment for metastasis development.
Broader Impact on Cancer Diagnostics
The development of more accurate MRD testing represents a significant advancement in cancer diagnostics and personalized medicine. By detecting cancer recurrence earlier and with greater accuracy, these tests may enable more tailored treatment approaches, potentially improving outcomes while reducing unnecessary interventions.
For Veracyte, the expansion into MRD testing builds upon its vision to transform cancer care through high-value diagnostic insights. The company's platform, which combines broad genomic and clinical data with bioinformatic and AI capabilities, continues to drive innovation in cancer diagnostics and patient care.
