Aspyre Lung enables robust variant calling in samples that fail next generation sequencing quality control

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Molecular testing is crucial for targeted therapy selection in non-small cell lung cancer (NSCLC).
• Current next-generation sequencing (NGS) methods face challenges like high failure rates and long turnaround times, delaying treatment.
• Many NSCLC patients do not receive timely, appropriate targeted therapy, leading to poorer outcomes.

Purpose of the Study:

• To evaluate the performance of Aspyre Lung, a rapid targeted genomic profiling assay, compared to NGS for NSCLC.
• To assess Aspyre Lung's ability to overcome NGS failures and identify actionable genomic variants.
• To determine the utility of Aspyre Lung in early-stage NSCLC for treatment decisions.

Main Methods:

• 198 NSCLC tissue samples were tested using Aspyre Lung and NGS.
• Cohort A included 107 samples that failed NGS quality control.
• Cohort B included 91 samples successfully tested by NGS; results were compared and discrepancies resolved orthogonally.

Main Results:

• Aspyre Lung achieved a 96% success rate on samples that failed NGS (Cohort A), identifying variants in 47% of these.
• 97% concordance was observed between Aspyre Lung and successful NGS testing (Cohort B).
• Aspyre Lung detected actionable variants, including EGFR and ALK, in early-stage NSCLC patients.

Conclusions:

• Aspyre Lung provides rapid, reliable genomic profiling for NSCLC, significantly reducing turnaround time and overcoming NGS limitations.
• The assay demonstrates high success and concordance rates, enabling timely identification of targetable mutations.
• Aspyre Lung is a valuable tool for rapid screening, particularly in early-stage NSCLC, informing treatment strategies like neoadjuvant therapy.