Analytic validation of NeXT Dx™, a comprehensive genomic profiling assay

Area of Science:

• Genomic Medicine
• Oncology
• Molecular Diagnostics

Background:

• Comprehensive genomic profiling (CGP) is crucial for personalized cancer therapy and clinical trial matching.
• Accurate detection of diverse genomic alterations is essential for effective treatment selection in solid tumors.

Purpose of the Study:

• To describe the analytic validation of the NeXT Dx assay for comprehensive genomic profiling.
• To evaluate the assay's performance in detecting various genomic alterations in solid tumors.

Main Methods:

• NeXT Dx utilizes whole exome and whole transcriptome sequencing with proprietary Accuracy and Content Enhanced technology.
• Patient-specific normal samples enhance somatic and germline variant calling.
• RNA sequencing improves gene fusion detection accuracy.

Main Results:

• NeXT Dx demonstrated high analytic sensitivity for SNVs (99.4%), indels (98.2%), CNAs (98.0%), and fusions (95.8%).
• Overall analytic specificity exceeded 99.0%.
• The assay is validated for 401 cancer-associated genes with potential for future expansion.

Conclusions:

• NeXT Dx provides accurate and comprehensive genomic profiling for solid tumors.
• The assay supports informed therapy and clinical trial selection for cancer patients.