Cancer Researchers Showcase the Integrated Use of Next-Generation Sequencing and Droplet Digital PCR in Cancer Monitoring at PMWC 2020

From top left are George Karlin-Neumann, Bio-Rad Laboratories, and speakers Isaac Garcia-Murillas, The Institute of Cancer Research, London (top right); Alex Dobrobvic, University of Melbourne, Austin Hospital, Heidelberg, Victoria, Australia (bottom left); Hanlee Ji, Stanford University, Palo Alto (bottom right).

Santa Clara, Calif. — Scientists will present data showing how Bio-Rad’s Droplet Digital PCR (ddPCR) technology can be used for efficient serial monitoring in cancer patients during a Bio-Rad workshop at the Precision Medicine World Conference (PMWC) in Santa Clara, California, January 21–24. The research highlights how ddPCR technology can serve as a powerful complement to the genetic profiling of tumors with next-generation sequencing (NGS), allowing for efficient and timely detection of minimal residual disease and molecular relapse.

NGS is considered the gold standard method for profiling the genetic makeup of tumors, which helps guide treatment decisions and predict therapeutic outcomes. However, following initial treatment, such as surgery, cancer patients may still harbor residual tumor tissue and therefore may be at risk for molecular relapse months or years later. To detect the earliest signs of residual disease or relapse, it is necessary to monitor patients at the molecular level on an ongoing (serial) basis.

Due to its relatively high cost, NGS’s susceptibility to artifacts at low mutant allele frequencies and turnaround time that can take weeks, NGS is not ideal for serial monitoring in routine clinical practice. On the other hand, ddPCR technology can be used to rapidly, precisely, and affordably monitor patients for residual disease and molecular relapse over time.

Through an approach called liquid biopsy, ddPCR technology quantifies genetic material from tumor cells that has been sloughed off and has entered the bloodstream. The concentration of this circulating tumor DNA (ctDNA) correlates with tumor burden more specifically than other blood biomarkers, and therefore its use in a simple blood test can more reliably reveal the presence of residual or recurring tumors. Using ddPCR, one cancer-associated mutation among more than 1,000 — or even 10,000 — wild-type copies can be detected with a turnaround time of a few days. With this data, clinicians gain valuable insights regarding when to add new therapies or to discontinue existing treatments that are not working. Due to the sensitivity of the test, this actionable information is collected well before clinical symptoms present and results are obtained quickly, easily, and affordably.

“NGS informs early treatment decisions, but after treatment initiation — and once the cancer is in remission — oncologists often have to wait for clinical symptoms to reappear before making subsequent treatment decisions,” said George Karlin-Neumann, PhD, Director of Scientific Affairs at Bio-Rad’s Digital Biology Group and chair of the workshop session. “By that time, the oncologist is unfortunately already trailing the cancer by months or even years. Serial monitoring with ddPCR technology enables physicians to detect signs of residual disease and relapse at the earliest possible moment so timely treatment decisions can be made to improve a patient’s outcome.”

Along with Karlin-Neumann, the workshop features panelists Isaac Garcia-Murillas, PhD, Staff Scientist at the Breast Cancer Now Research Centre, The Institute of Cancer Research in London; Alex Drobrovic, PhD, Head, Translational Genomics and Epigenomics, University of Melbourne, Austin Hospital, Heidelberg, Victoria, Australia; and, Hanlee Ji, MD, Assistant Professor, Medicine, Oncology, Stanford University, Palo Alto.

During the session, panelists will discuss how ddPCR technology integrates with NGS to enable precision serial monitoring following diagnosis using several types of genetic cancer biomarkers, including single nucleotide polymorphisms (SNPs) and gene fusions. Dr. Ji will introduce a new method for monitoring ctDNAs using ddPCR technology without synthetic probes, opening the door to even more rapid and inexpensive assays.

The hour-long workshop, titled “Patient-Specific Cancer Monitoring with Droplet Digital PCR,” will be held at 2 PM Thursday, January 23,as part of Track 4. Visit the conference website to learn more about the panelists.

Visit to learn more about Droplet Digital PCR applications discussed at PMWC.

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