Whole-Cell Genomic Analysis Expands the Potential of Liquid Biopsy

Isolating intact circulating tumor cells from a standard blood draw offers access to genomic information from whole tumor cells. A newly launched test now uses this approach to provide comprehensive variant detection and key biomarker reporting from a single sample.

Cancer Cell Diagnostics (CCDx; Jupiter, FL, USA) has commercially launched CellSight DNA, a comprehensive genomic profiling test that analyzes intact circulating tumor cells rather than fragmented circulating DNA. The assay is the first test available on the company’s CellSight platform and is positioned as an alternative to conventional fragment-based liquid biopsy approaches.

The platform uses a proprietary, patent-pending enrichment method to isolate intact circulating tumor cells from a standard blood draw, with DNA extracted directly from the enriched cells. Its next-generation sequencing panel covers more than 500 genes and detects single nucleotide variants, insertions and deletions, and copy number variations. The test also reports microsatellite instability status and tumor mutational burden from the same sample, providing a consolidated molecular profile.

Testing is performed at CCDx’s CLIA-certified laboratory in Jupiter, Florida. CellSight DNA is a laboratory-developed test and has not been cleared or approved by the U.S. Food and Drug Administration (FDA).

In analytical validation conducted under standard operating procedures, CellSight DNA demonstrated a 5% limit of detection for single nucleotide variants, with analytical sensitivity exceeding 99% and positive predictive value above 97%. Representative insertions and deletions were also qualitatively detected across the tested set.

Because the enrichment method preserves intact cells, the same material can potentially support applications beyond DNA sequencing, including RNA, protein, functional, and multiomics analyses. The CellSight platform is designed to support future assay expansion within this whole-cell framework.

“We profile more than 500 genes and report tumor mutational burden (TMB) and microsatellite instability (MSI) status from a single blood draw,” said Tifiny McDonald, Chief Executive Officer of CCDx.

“ Because our technology works from intact circulating tumor cells rather than cell‑free circulating tumor fragments, the CellSight platform is designed to provide oncologists with a more comprehensive profile of the tumor. Furthermore, because CellSight recovers whole cells, we have a clear path to utilize the same sample well beyond DNA sequencing,” McDonald added.

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