Novel Technology Detects Key Mutations from Blood Samples in Metastatic Colorectal Cancer Patients

Accurate and timely mutation profiling in patients with metastatic colorectal cancer is critical for effective treatment monitoring and relapse detection. However, conventional approaches often rely on complex, costly workflows and are typically confined to centralized laboratories. Liquid biopsies offer a promising alternative for non-invasive disease tracking, but their widespread use is limited by the scalability and affordability of current next-generation sequencing (NGS) techniques. Now, a study has demonstrated a new solution that matches the sensitivity of gold-standard methods such as droplet digital PCR (ddPCR) for mutation profiling in cell-free DNA of metastatic colorectal cancer patients.

The technology, called Bridge Capture, has been developed by Genomill Health (Turku, Finland) and is based on its proprietary Geno1 platform, which uses circular single-stranded DNA and PCR-free linear DNA amplification to enhance NGS library preparation. By leveraging circular DNA, the method overcomes the rigidity of traditional linear libraries, allowing for greater flexibility and robustness. Its streamlined and cost-effective workflow enables scalable targeted sequencing across multiple sequencing platforms, positioning it as a decentralized solution for routine cancer diagnostics. The technology was evaluated in a clinical pilot study conducted by Genomill, in collaboration with Helsinki University Hospital (Helsinki, Finland). The study explored the use of Bridge Capture for detecting mutations in cell-free DNA from metastatic colorectal cancer patients.

Image: The novel technology matched or exceeded gold-standard methods in detecting mutations in patient samples (Photo courtesy of Adobe Stock)

The findings, published in Scientific Reports, showed a high concordance with both ddPCR and Ion AmpliSeq, and uncovered several previously unidentified oncogenic mutations indicative of disease progression. The study confirmed that Bridge Capture matches or exceeds the performance of existing gold-standard methods in detecting mutations in patient plasma samples. By enabling longitudinal tracking of tumor mutations, the technology supports early intervention, relapse monitoring, and personalized treatment planning. Bridge Capture’s capability to combine highly scalable, sensitive targeted sequencing with cost-efficiency and ease of use could significantly expand the use of liquid biopsies in treatment monitoring. Researchers aim to expand the use of Bridge Capture by removing the financial and technical barriers that currently limit the accessibility of liquid biopsies for cancer diagnostics.

“This clinical pilot study highlights Bridge Capture’s readiness for real-world applications in liquid biopsy. The unparalleled simplicity of the laboratory workflow and the compatibility across multiple sequencing platforms lays ground for distributed, decentralized, longitudinal cancer diagnostics,” said Manu Tamminen, CEO and Co-Founder of Genomill. “By removing cost and infrastructural constraints that currently hinder the routine use of liquid biopsies, we seek to establish Bridge Capture as an enabling technology for highly accessible cancer diagnostics.”

Related Links:
Genomill Health
Helsinki University Hospital