- Advanced research workflow supports rapid, flexible molecular residual disease testing during and after treatment
- This solution is the first in Illumina’s new WGS oncology product portfolio, building on the company’s long-standing technical expertise to further expand the MRD market application
SAN DIEGOMay 28, 2026 /PRNewswire/ — On May 28, 2026, Illumina, Inc. (NASDAQ: ILMN) announced the launch of a comprehensive research solution for molecular residual disease (MRD) detection based on whole-genome sequencing (WGS). As a commercial kit, this solution will enable more laboratories to adopt MRD testing in clinical research. Currently, the MRD solution is available for early access to select clinical research partners and is Illumina’s first WGS kit offering flexibility to support solid tumor MRD detection and hematological tumor genomic analysis. This solution is also the first product in Illumina’s new WGS oncology research portfolio, with additional solutions leveraging the latest technological advancements of NovaSeq™ X under development.
“In precision medicine, early and accurate detection of molecular residual disease is critical for patient monitoring during and after cancer treatment,” said Todd Christian, Senior Vice President of Services, Arrays, and Genomics Access at Illumina. “Illumina’s MRD solution for clinical research combines the high sensitivity of whole-genome sequencing with superior analytical capabilities, helping customers obtain more precise information more efficiently, thereby advancing MRD research. We are committed to enhancing the accessibility and scalability of WGS in oncology, supporting the integration of precision solutions into standard care pathways.”
The MRD solution supports “molecular fingerprinting” analysis through solid tumor samples and MRD detection via blood samples, both of which can be performed on the NovaSeq series of sequencers. This 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, which is particularly critical for early-stage tumors and tumors with low DNA shedding, such as breast, ovarian, and kidney cancers.
Illumina’s pioneering DRAGEN™ MRD analysis correlates molecular fingerprints with circulating tumor DNA (ctDNA), offering customers a flexible workflow combination to meet their specific needs. Leveraging DRAGEN’s exceptional speed and accuracy, this new MRD solution has been optimized using thousands of samples, with the development and validation of a ctDNA detection algorithm. This algorithm achieves an analytical specificity of 99.5%, capable of distinguishing true tumor signals from background noise.
Early Users Report Robust Performance of Illumina’s WGS Oncology Solution
Several academic institutions have evaluated this workflow. Mayo Clinic1 assessed the solution in a small sample cohort, demonstrating high concordance between previously characterized paired samples, as well as strong correlation with clinical and imaging data over time. The research team plans to expand the sample cohort and conduct further studies with Mayo Clinic and other academic partners.
“We look forward to participating in the early access and evidence generation for this tumor-informed, non-customized whole-genome sequencing MRD detection method,” said Gang Zheng, M.D., Ph.D., Professor of Laboratory Medicine and Pathology at Mayo Clinic. “We have observed preliminary results in multiple solid tumor clinical samples, indicating potential value for high-sensitivity solid tumor MRD detection. We will continue to evaluate the technology to more efficiently enhance our ability to analyze complex genomic data and drive its translational application.”
Illumina and Bristol Myers Squibb will jointly present a poster at the American Society of Clinical Oncology (ASCO) Annual Meeting on Sunday, May 31, 2026, from 9:00 AM to 12:00 PM Chicago time (Abstract No. 8591, Board No. 381, Lung Cancer—Non-Small Cell Metastatic Session). For more information, please see the related link.
Ultra-High Sensitivity Development Roadmap for Broader Applications
Building on the recently announced technological advancements of NovaSeq X (including 35B read output and Q70 quality scores), Illumina is developing a complementary research workflow that will leverage duplex reads to achieve ultra-high sensitivity MRD detection at single-digit ppm levels.
“Illumina continues to push the boundaries of NovaSeq X, helping customers overcome limitations and unlock more scientific discovery potential,” said Dr. Steve Barnard, Chief Technology Officer at Illumina. “The new product portfolio will bring advanced MRD research capabilities directly into laboratories with exceptional speed and sensitivity. NovaSeq X is built for the long term, and Illumina will continue to introduce innovative technologies to help customers accelerate breakthroughs in oncology.”
Illumina’s technology also supports leading central laboratory MRD service providers currently on the market. As MRD applications advance, the foundational capabilities of NovaSeq X meet the demands for quality, reliability, and scalability. Illumina’s new oncology product portfolio is centered on NovaSeq X, leveraging its unique integrated insight ecosystem that combines workflows, data, and community resources in genomics, multi-omics, and clinical research applications.
Illumina’s MRD research solution is currently available for early access to select partners and is planned for global commercial release next year. For more information, please see the related link.
Forward-Looking Statements
This press release may contain forward-looking statements involving risks and uncertainties. Factors that could cause actual results to differ materially from those expressed in the forward-looking statements include, but are not limited to: (i) our ability to successfully implement NovaSeq X upgrades in a cost-effective and timely manner; (ii) challenges inherent in developing and launching new products and services, including adjustments to and scaling of production processes, and reliance on third-party suppliers for key components; (iii) our ability to achieve stable manufacturing of instruments and consumables and provide reliable software solutions; and (iv) customer acceptance and adoption of newly launched or upgraded products, which may differ from our expectations. Additionally, other risk factors are listed in our filings with the U.S. Securities and Exchange Commission (including our most recent Form 10-K and Form 10-Q reports) and information disclosed in public conference calls, the dates and times of which will be announced in advance. Illumina assumes no obligation and does not intend to update these forward-looking statements, review or confirm analysts’ expectations, or provide interim reports or updates on the progress of the current quarter.
About Illumina
Illumina is dedicated to improving human health by unlocking the power of the genome. Our focus on innovation has made us a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are widely used in life sciences, oncology, reproductive health, agriculture, and other emerging fields. For more information, please visit www.illumina.com or follow Illumina on WeChat.
- As an early user, Mayo Clinic independently performed and evaluated the assay in its laboratory.
- As of the Q4 financial disclosures, the NovaSeq X active install base was 890 at the end of FY2025.
According to Q4 financial disclosures, as of the end of FY2025, the active install base of NovaSeq X was 890 units.