By Diagnostics World Staff
June 8, 2026 | Illumina plans a new portfolio of whole genome sequencing oncology research offerings, starting with a kit for molecular residual disease (MRD) research that the company hopes will enable more labs to adopt MRD detection for clinical research. The MRD research solution is available today for early access to select partners and will launch for global customers next year.
“Illumina's MRD solution for clinical research leverages the advanced sensitivity of whole-genome sequencing, coupled with unparalleled analysis, to enable our customers to more easily deliver the most precise information to advance MRD research,” said Todd Christian, senior vice president of Services, Arrays and Genomic Access at Illumina in a press release. “We aim to make WGS in oncology more accessible and scalable to support the integration of precision solutions into the standard of care.”
The MRD solution is the first whole-genome kit with flexibility to enable solid tumor MRD and blood cancer genomic profiling. It supports “fingerprinting” solid tumors by sequencing tumor samples compared to the germline, and then MRD detection using circulating tumor DNA in blood samples, all compatible on NovaSeq Systems. The end-to-end research workflow can be completed in as fast as 5 days and is optimized for analytical sensitivity as low as 10 ppm, particularly important for early-stage and low-shedding tumors, including breast, ovarian, and renal.
Each fingerprint is linked to serial circulating tumor DNA (ctDNA), offering customers flexible workflow combinations to meet their specific needs. Leveraging DRAGEN's unparalleled speed and accuracy for data analysis, the new MRD solution has been optimized across thousands of samples to develop and demonstrate a ctDNA detection algorithm with 99.5% analytical specificity to distinguish true tumor signals from background noise.
The solution has been in early access for select clinical research partners. Mayo Clinic evaluated the solution on a small sample cohort and found high concordance among previously characterized paired samples. The results were also highly correlated with clinical and imaging results over time.
"We have seen early pilot results across several solid tumor clinical samples that demonstrated the potential utility of highly sensitive solid tumor MRD detection, and we continue to pilot technologies that help us efficiently progress in our ability to analyze and translate complex genomic arrays,” said Gang Zheng, MD, PhD and professor of Laboratory Medicine and Pathology at Mayo Clinic.
While the current kit achieves analytical sensitivity as low as 10 ppm, Illumina is pursuing ultra-sensitive testing MRD detection in the single-digit ppm range leveraging duplex reads. These advances rely on NovaSeq X advancements, including 35B output and Q70 quality scores.
“The new portfolio will bring advanced MRD research directly into labs with unmatched speed and sensitivity,” said Steve Barnard, PhD, chief technology officer of Illumina in the same statement. “The NovaSeq X is built for the long term, and Illumina will continue to deliver technologies that empower our customers to accelerate oncology breakthroughs.”