Liquid biopsy: Unlocking deeper tumor insights

• Liquid biopsy provides a non-invasive way to access tumor-derived biomarkers, with ctDNA offering valuable insights into tumor heterogeneity
• Advances in technology are helping overcome earlier challenges in sample stability, sensitivity, and workflow adoption
• Roche offers flexible liquid biopsy solutions and high-quality performance features that support reliable testing across the full workflow

Liquid biopsy offers quick and easy access to tumor samples, as well as the potential for serial sampling. This non-invasive technology makes it feasible to expand oncology research to include cohorts that are unable to undergo a standard biopsy procedure or did not yield adequate tissue samples. With liquid biopsy, researchers can analyze biomarkers circulating in the bloodstream obtained through a conventional blood draw.

Cell-free DNA (cfDNA), which is naturally released into the bloodstream during normal cell turnover, forms the basis of most liquid biopsy workflows. Within this broader pool, circulating tumor DNA (ctDNA) represents the fraction that originates specifically from tumor cells. ctDNA has gained significance as a biomarker for cancer because it can provide a more accurate representation of tumor heterogeneity compared with tissue samples.¹ Because ctDNA often exists at very low levels relative to total cfDNA, highly sensitive molecular technologies are required to detect and quantify tumor-derived variants with confidence.

• Routine blood draws for easy, non-invasive sample access
• ctDNA can reveal a cancer’s comprehensive genetic profile¹
• Potentially more accurate representation of tumor heterogeneity and burden¹
• Ability to perform multiple tests on the same subject, supporting the potential for longitudinal monitoring

While the benefits of liquid biopsy are clear, several technical and operational factors have historically limited its broader adoption. Sample stability was a major constraint, as cfDNA can degrade quickly and may become contaminated with genomic DNA from lysed blood cells if not processed rapidly.²

Many laboratories also lacked workflows optimized for low-input samples, and earlier sequencing methods struggled to distinguish low-frequency ctDNA variants from background noise. Combined with time-intensive workflows and the need for specialized technical expertise, these barriers made it difficult for molecular laboratories to implement liquid biopsy as a routine part of oncology research.²

As liquid biopsy technologies continue to advance, researchers and laboratories are seeking greater standardization and consistency across the entire workflow. Pre-analytical steps such as blood collection, transport, and storage can have a significant impact on downstream results, making it essential to use reliable tools and processes that help protect sample integrity from the start.

At the same time, improvements in molecular analysis methods are enhancing sensitivity, enabling the detection of low-frequency variants that were previously challenging to identify with confidence. These advancements are creating opportunities not only in oncology research but also in broader scenarios where non-invasive testing may offer clinical or operational value. As adoption grows, laboratories increasingly need solutions that are scalable and straightforward to integrate into existing workflows, helping streamline implementation and reduce the burden on staff. This growing need underscores the value of comprehensive, end-to-end liquid biopsy solutions.

From sample collection, polymerase chain reaction (PCR) testing, and next-generation sequencing (NGS), Roche’s robust liquid biopsy portfolio is bringing new possibilities to clinical research and diagnostics.

As liquid biopsy technologies continue to evolve, researchers and laboratories are also looking for greater standardization and consistency across the entire workflow. Pre-analytical steps such as blood collection, transport, and storage can influence downstream results, making it essential to have reliable tools and procedures that ensure sample integrity from the outset. 

In parallel, advancements in molecular analysis methods are driving improvements in sensitivity, enabling detection of low-frequency variants that were previously difficult to identify with confidence. These developments are opening new opportunities not only in oncology research, but also in broader areas where non-invasive testing can offer clinical or operational advantages. As adoption increases, laboratories are seeking solutions that are both scalable and easy to integrate into existing processes, helping to streamline implementation and reduce the burden on staff. This growing need underscores the importance of comprehensive, end-to-end liquid biopsy workflows.

To support the need for reliable, scalable workflows, the Roche liquid biopsy portfolio offers flexible solutions from simple PCR workflows to turnkey NGS kit-based options, enabling:

• cfDNA collection
• Tumor profiling
• Research applications in minimal residual disease surveillance 
• Research applications in tumor burden longitudinal monitoring

Roche supports dependable performance across the liquid biopsy workflow with key features designed to help ensure consistency and reliability, including:

• Collection tubes providing a high degree of stability to prevent cell lysis up to 8 hours²
• Reliable PCR assays backed by robust clinical evidence
• Ultra-sensitive NGS ctDNA tumor profiling, surveillance, and monitoring assays that are purpose-built for liquid biopsy research
• Sample stability in transit and at different temperatures²
• PCR assays run on the trusted cobas® platform
• Fully supported by Roche’s leading service, logistics, and distribution network

As the intricacies of cancer become better understood, new discoveries will follow. From uncovering the next major breakthrough to monitoring for disease progression, the Roche liquid biopsy research portfolio can help make your vision of personalized patient care a reality.