NSCLC as Case Study
To bridge incidence with clinical practice, I have chosen advanced non–small cell lung cancer (NSCLC) as a reference to illustrate how biomarker testing translates into concrete companion diagnostic (CDx) workflows, assay requirements, and operational constraints.
This section is based on the NCCN Clinical Practice Guidelines in Oncology (NSCLC), which define current standards for molecular testing in advanced disease:
Why NSCLC?
- Therapy selection is directly driven by molecular findings
- Multiple actionable alterations across DNA and RNA
- Multi-gene profiling is standard, not optional
- Repeat testing at progression (often via ctDNA)
- Turnaround time and tissue constraints are clinically visible
What guidelines require
- NGS multi-gene panel testing
- Single-gene testing discouraged
- RNA-aware assays needed for fusion/splice detection
- Tissue efficiency is critical
- ctDNA complements tissue, especially at progression
- Results must be interpreted in light of tumour fraction and assay sensitivity
In brief, NSCLC is defined by a testing strategy, not a single assay.
Why this matters for sequencing demand
- One test per case is a lower limit (limited biopsy material, resistance, progression monitoring)
- Demand is better described as tests per patient over time
- DNA + RNA profiling and repeat testing favour centralised, scalable sequencing platforms