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Next-generation sequencing is a balancing act between sensitivity, genomic coverage, and cost.
“Pan-cancer” and “universal” NGS tests sacrifice sensitivity and cost in favor of broad coverage and are not able to meet the needs of a wide range of applications.
Therefore, Sysmex Inostics has developed SafeSEQ, a highly sensitive, customizable NGS solution for precision oncology:
For NGS-based testing, real-world limitations mean there is little flexibility around sample input DNA amount and cost. As a result, a trade-off exists between sensitivity and genomic coverage.
Coverage across a large area is possible at relatively low sensitivity, or high sensitivity can be achieved for focused coverage of a few targets. If both high sensitivity and comprehensive coverage are required, sample input and cost are increased.
A novel application with unique needs
The emerging utility of tracking tumor-specific genetic alterations for molecular monitoring of disease status in real time highlights the need for flexible tests.
Discovery of cancer-relevant mutations via tissue sequencing requires an assay that interrogates the most relevant set of targets for a particular type of cancer. After somatic mutations have been characterized in the tissue, tracking via ctDNA analysis of serial blood draws requires extremely high sensitivity, and high resolution detection of the selected markers.
An NGS test used for disease monitoring must be able to modulate the balance between sensitivity and genomic coverage to ensure robustness for both discovery as well as tracking of mutations. Through unique design and customization, SafeSEQ is able to fulfill these requirements.
This allows for differentiation between real mutations and errors introduced during the amplification and sequencing process.