Webinar: Prevalence of blood-based biomarkers determined by liquid biopsy molecular testing in the community setting in the United States: a focus on NSCLC

Webinar summary

This webinar focuses on the prevalence of blood-based biomarkers in non-small cell lung cancer (NSCLC) using molecular testing in a U.S. community setting. The presentation highlights real-world data generated from a centralized laboratory using the GeneStrat NGS test, with an emphasis on improving access to molecular diagnostics, particularly where on-site testing is limited.

Study overview

The study analyzes approximately 8,000 test orders from a commercially distributed liquid biopsy NGS assay covering 52 cancer-related genes. The dataset reflects real-world use across the United States, primarily in community care settings.

The GeneStrat NGS test detects four major variant classes:

• Single nucleotide variants (SNVs)
• Insertions and deletions (indels)
• Gene fusions
• Copy number amplifications (CNAs)

The test was developed through a comprehensive validation process including analytical and clinical validation, sensitivity and specificity assessment, and real-world performance monitoring. It is designed to deliver results within approximately 72 hours to support timely treatment decisions.

The analysis explores:

• Geographic distribution of testing and variants
• Variant prevalence across mutation classes
• Differences by gender and ethnicity
• Trends in community-based molecular testing

Key findings

Variant prevalence and distribution

• TP53 was the most frequently observed mutation, followed by KRAS and EGFR
• Across the U.S., no geographic “hotspots” were identified; variants were broadly distributed in line with testing patterns
• Approximately 20% of cases showed actionable SNV/indel mutations

Fusion and copy number alterations

• Fusions were observed in ~15% of cases, with EML4-ALK as the most common
• Copy number amplifications were less frequent but clinically relevant, MYC and FGFR1 had the highest frequency for CNAs

Workflow and clinical utility

• Blood-based NGS testing enabled rapid turnaround (~72 hours), supporting timely clinical decision-making
• The approach addresses unmet needs in settings lacking local molecular testing infrastructure
• Testing is used across the care continuum, with pulmonologists representing the largest ordering group (~60%)

Gender-based differences

• Overall mutation frequency was similar between males and females, but molecular diversity was higher in females
• KRAS G12C mutations were more prevalent in females, while BRAF V600E mutations were more common in males
• Copy number amplifications showed higher representation in females, with specific differences in driver genes between genders

Ethnicity insights

• TP53 mutation frequency was consistent across ethnic groups
• EGFR mutations were more prevalent in underrepresented populations, while KRAS mutations were less frequent compared to the overall population
• Data on fusions and CNAs in underrepresented groups remains limited, indicating a need for further study

Conclusion

This real-world analysis demonstrates that blood-based NGS testing helps provide comprehensive and rapid molecular profiling for NSCLC in community settings. The study highlights consistent variant distribution across geographies, while identifying meaningful differences by gender and ethnicity that may inform future research and therapeutic strategies.

By enabling timely detection of actionable mutations and expanding access to molecular diagnostics, liquid biopsy NGS testing supports improved clinical decision-making across the cancer care continuum.

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