Real-world study data reveals better outcomes for cancer patients who receive comprehensive genomic testing

May 30, 2023

Data also shows that current standard-of-care testing for cancer patients falls short in multiple ways

SAN DIEGO, May 30, 2023 /PRNewswire/ -- Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced some of the latest data on the impact of comprehensive genomic profiling (CGP) for oncology patients, which will be presented at the American Society of Clinical Oncology's Annual Meeting June 2–6 in Chicago. In addition to the real-world study data, Illumina, along with study collaborators, will also present on findings that expose gaps in current standard-of-care and unmet needs for cancer patients.

"As the number and complexity of targetable variants in advanced cancers has increased, CGP has become the standard of care," said Dr. Phil Febbo, chief medical officer of Illumina. "We are proud to collaborate with leaders in oncology to present compelling real-world evidence demonstrating improved survival in cancer patients who received CGP testing and targeted therapy compared to standard chemotherapy."

While CGP is increasingly included in care guidelines, the inconsistent application of CGP creates a major gap in the standard-of-care practice for advanced cancer. In order to understand the benefit of more consistent use of CGP, Providence, a not-for-profit health system serving the Western US, implemented a reflex testing protocol where CGP was routinely ordered by pathologists at time of diagnosis for advanced cancer patients. The abstract, "Improved outcomes from reflex comprehensive genomic profiling-guided precision therapeutic selection across a major US healthcare system," (abstract #6622) will be presented on June 3 from 1:15 to 4:15 p.m. at the ASCO Annual Meeting. It concludes: "CGP-guided precision therapy use is associated with significantly higher survival in a reflex testing population. A reflex protocol can overcome key barriers to the use and timing of genomic testing to improve access to these life-extending treatment modalities."

"Providence is committed to conducting research aimed at enhancing our understanding of therapies' effectiveness in real-world scenarios," said Dr. Carlo Bifulco, chief medical officer of Providence Genomics. "By gaining insights from this research, we strive to improve patient care and outcomes, benefiting both our patients and the broader health care industry. This study showcases the significant impact of implementing CGP testing systematically at the point of diagnosis, underscoring its potential to significantly improve survival rates in advanced stage cancer patients."

As tumor tissue is not always available for testing, another abstract reports on a collaborative study with Allegheny Health Network, a 14-hospital academic medical system serving western Pennsylvania and western New York, that revealed a high correlation of plasma circulating tumor DNA assays with values obtained from the solid tumor CGP assay. This included the identification of additional potentially actionable variants detected specifically in the plasma assay (abstract #3059). And to further clarify the value of complex biomarkers in cancer care, Illumina participated with the SEQUOIA (Sequencing and Oncology Informatics Academic) Consortium to map the landscape of tumor mutational burden across multiple cancer types in more than 10,000 patients (abstract #2615) across broad demographics.

Collectively, these studies contribute to the growing evidence supporting the benefit of CGP, from tissue or liquid biopsies, for advanced cancer patients.

Struggles in current standard-of-care testing

Illumina will also present two posters illustrating both the gaps in current testing practices and a study indicating that a large percentage of cancer patients who are eligible for biomarker testing are not receiving any genomic testing whatsoever.

Small-panel genomic assays that test for key cancer-related biomarkers remain part of routine care in oncology in some regions. Certainly, any testing is better than no testing to help guide therapy. However, a descriptive analysis of guideline-recommended biomarker inclusion in targeted NGS panels for metastatic non-small cell lung cancer (mNSCLC), found that nearly all commercially available small panels miss at least one biomarker recommended in clinical practice guidelines (abstract #3124).

Of 32 commercially available NGS panels with <100 genes, only 7 captured all 3 variant classes and of those, only 2 captured all 12 guideline-recommended biomarkers in advanced or metastatic NSCLC. This study highlights how the small panels are often insufficient in keeping up with the rapidly expanding number of clinically actionable biomarkers, leaving patients without access to therapies that can dramatically improve outcomes.

Another poster presentation on an abstract based on research using data from a large insurance claims database, "Real-world analysis of commercially insured and Medicare Advantage patients with advanced cancer and rates of molecular testing," (abstract #6633) aimed to understand the use of biomarker testing across types of cancer. It found that across tumor types, between 50% and 80% of advanced cancer patients (those eligible for biomarker testing and with clinical practice guidelines recommending testing) do not receive any kind of genomic testing. The abstract's conclusions include: "Considering guideline recommendations, rates of biomarker testing across tumor types are far from optimal despite insurance coverage for testing."

"In aggregate, these studies underscore the promise of personalized oncology and raise awareness that many patients do not get the opportunity to benefit," said Febbo. "Too many eligible patients are not receiving appropriate testing or receiving sub-optimal testing. When we fail to give every patient an opportunity to benefit from effective therapy, we fail our patients."

As the industry and the medical community continue to produce supporting evidence on the clinical efficacy and utility of CGP, it highlights the importance of clinical adoption and implementation. Kevin Keegan, general manager of Oncology at Illumina, said: "We are committed to raising awareness among the oncology and payer communities of the real-world evidence and impact that CGP has demonstrated. We look forward to connecting with our colleagues and collaborators at ASCO to advance the mission of bringing CGP into the standard of care."

At the conference, the Illumina booth (#7307) will debut an educational game, "Comprehensive Genomic Protector," for providers to practice connecting variants with targeting drugs.

About Illumina

Illumina is improving human health by unlocking the power of the genome. In 2023 we celebrate 25 years of innovation, which 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 Twitter, Facebook, LinkedIn, Instagram, TikTok, and YouTube.    


Salli Schwartz


David McAlpine

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SOURCE Illumina, Inc.