Press Release

Press Release

Illumina drives genomic testing as standard of care in oncology through collaborative research presented at ASCO

May 29, 2024

Studies presented represent key focus areas, including building evidence for clinical utility of comprehensive genomic profiling; overcoming market access barriers, and progressing the whole-genome approach for MRD

SAN DIEGO, May 29, 2024 /PRNewswire/ -- Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced some of its latest research being presented at the American Society of Clinical Oncology (ASCO) Annual Meeting, May 31–June 4 in Chicago. Highlights include data from several studies in partnership with Labcorp, a global leader of innovative and comprehensive laboratory services; research with Sarah Cannon Research Institute (SCRI) demonstrating further evidence to support the use of comprehensive genomic profiling (CGP) over single-gene testing (SGT); and the latest data supporting the development of Illumina's molecular residual disease (MRD) assay, which is currently underway in collaboration with major pharma companies. In total, Illumina had 14 abstracts accepted to the meeting.

"Illumina is proud of our collaborations across all areas of the oncology, research, clinical, and payer communities to produce strong evidence to further enable genomic testing for patients with cancer," said Nicole Berry, head of the Americas region at Illumina. "Through this continued commitment, we can support our customers and partners to achieve their precision oncology goals for the benefit of patients everywhere."

Illumina and Labcorp: innovation-driven research

Illumina and Labcorp share five abstracts accepted at ASCO. The organizations have a longstanding partnership working to build evidence of the clinical impact and value of comprehensive biomarker testing for patients across different cancer types, to ultimately increase community oncology physicians' access to the latest genomic testing. Among the joint abstracts accepted is a poster presentation on the development and application of a machine learning algorithm trained on multiomics biomarkers for the detection of tumor microsatellite instability (MSI), which is common in certain cancers (Abstract 1554). The study analyzed samples from 1838 patients with colorectal cancer using comprehensive genomic and immune profiling (CGIP). The study findings indicate that the machine-learning-driven approach accurately assessed MSI status of colorectal cancer and endometrial adenocarcinomas using CGIP data.

"Through our partnership with Illumina, we are deploying innovative research opportunities that leverage the strengths of our respective teams," said Shakti Ramkissoon, MD, PhD, vice president, medical lead for oncology at Labcorp. "This algorithm is especially exciting as a potential tool to improve assessment of MSI status."

Greater evidence supporting CGP over SGT

Illumina continues to work with leading research institutions to validate the clinical utility and value of CGP testing. CGP is a single next-generation sequencing assay that assesses hundreds of genes, including relevant cancer biomarkers, for therapy guidance. This year, a real-world analysis done with SCRI will present data demonstrating the performance of CGP versus SGT in guideline-recommended biomarker selection in non-small-cell lung cancer (NSCLC) (Abstract 8640).

"The findings showed that patients with stage IV NSCLC who underwent SGT received results for all nine guideline-recommended biomarkers only 1.2% of the time, as compared to 71.7% of the time for patients tested with CGP testing," said Vivek Subbiah, MD, chief, Early-Phase Drug Development at SCRI. "Our findings clearly indicate that relying solely on single-gene testing or hot-spot testing leads to incomplete biomarker testing, which can compromise targeted therapy treatments for patients with NSCLC. To ensure optimal patient outcomes, it is imperative that we transition to comprehensive next-generation sequencing as the standard of care for NSCLC."

This work builds on evidence presented by Illumina and its collaborators at ASCO 2023, including a study with Labcorp that demonstrated that the initial use of SGT increases subsequent CGP test cancellations, and concluded that SGT practice in the community oncology setting does not meet practice guideline recommendations and negatively impacts the potential benefit of subsequent CGP for NSCLC patients (2023 Abstract 6506). 

Data shows progress on MRD assay

At ASCO 2024, Illumina will present an analytical performance evaluation of its MRD assay, highlighting its fast turnaround time, low input requirements, and high sensitivity and specificity over existing market options (Abstract 3060). Earlier this year, Illumina announced collaborations with pharmaceutical companies to innovate on its MRD research assay, which is currently under development on a whole-genome backbone.

"We're committed to delivering impactful research to help enable genomic testing in oncology care," said Pratheesh Sathyan, head of Oncology for the Americas region at Illumina. "The work being presented at ASCO this year, which includes research conducted with Eurofins, Labcorp, and SCRI, will help advance access to precision oncology solutions for patients."

About Illumina

Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit and connect with us on X, Facebook, LinkedIn, Instagram, TikTok, and YouTube


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SOURCE Illumina, Inc.