GEN eBook - From Sample to Insight | Precision Oncology

From Sample to Insight: Technologies Driving the Future of Precision Oncology Assays

Table 2. Examples of FDA-cleared targeted tNGS assays used in clinical practice

biopsy samples. The workflows are more complex than PCR-based methods, typically involving longer turnaround times, higher per-sample costs, and the need for specialized equipment and personnel. Additionally, the downstream

bioinformatics analysis can be resource-intensive, and variant interpretation, especially for less well-characterized mutations, remains a significant bottleneck in clinical reporting. 5

Whole Genome Sequencing (WGS): Unbiased Insight for Complex Cases

Whole-genome sequencing (WGS) is a high- throughput genomic technique that decodes the entire DNA sequence of an organism’s genome in a single assay. Unlike targeted methods that focus on specific genes or regions, WGS provides an unbiased, base-by-base view across all chro- mosomes. It captures a broad spectrum of variant types, including single-nucleotide variants (SNVs), insertions and deletions (indels), copy number alterations, structural rearrangements, and muta- tions in noncoding regions. 6 As sequencing tech- nologies have advanced, WGS has become faster, more accurate and increasingly cost-efficient—

enabling its integration into large-scale genomic research and increasingly, clinical exploration.

In oncology, this comprehensive scope makes WGS particularly valuable for translational research, rare cancer characterization, and biomarker discovery. Because it does not rely on prior assumptions about which regions are relevant, WGS is uniquely suited to detect novel driver mutations, charac- terize complex structural variants and uncover regulatory alterations in noncoding regions that may influence tumor behavior. Its ability to deliver a complete genomic snapshot provides deeper

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