Precision at the molecular level: The future of genomic oncology

For years, reading a tumor’s genetic code meant dealing with major technical barriers. Today, new whole genome sequencing methods are changing the landscape by revealing faint genetic traces that were once impossible to see.

Genomic sequencing has transformed cancer research by showing how tumors grow, change and react to treatment. Liquid biopsies — simple blood tests that look for circulating tumor DNA (ctDNA ) — allow researchers to track cancer without invasive surgery. In minimal residual disease (MRD) research, finding tiny amounts of ctDNA helps reveal if cancer remains after treatment or signals that it may have returned.

Catching these faint signs requires extreme sensitivity. Researchers must constantly struggle with minimal amounts of cancer markers in the sample and background noise. At the same time, solid tissue preservation often degrades over time, damaging the sample’s molecular structure and creating artificial errors during testing.

A sensitive, new sequencing method called sequencing by expansion (SBX) by Roche helps address these problems and shows promise in oncology research. By converting DNA information into “expanded” synthetic surrogate molecules for high-throughput sequencing, SBX helps researchers detect tiny traces of ctDNA while filtering out background noise.

This technology works through a simple, step-by-step process where every part connects.

First, researchers sequence matched tissue samples from both the tumor and healthy cells. By comparing the two, they can accurately differentiate somatic cancer mutations from inherited germline mutations. Once this genetic baseline is set, SBX technology is used on blood samples to catch minute traces of ctDNA during ongoing monitoring.

A seamless analysis workflow powers this process. First, integrated compute hardware automatically generates high-quality, application-agnostic data without manual intervention. Following this, Roche’s XOOS analysis tools perform specialized secondary analysis to deliver clear, reliable insights.

This two-pronged approach provides researchers with a fast, flexible and accurate way to monitor ctDNA.

Disclaimer: For Research Use Only. Not for use in diagnostic procedures.