# Liquid Biopsy and Automated Next-Generation Sequencing: Achieving Results in 27 Hours Within a Community Setting

**Authors:** Tomomi Yajima, Fumitake Hata, Sei Kurokawa, Kanan Sawamoto, Akiko Yajima, Daisuke Furuya, Noriyuki Sato

PMC · DOI: 10.3390/diagnostics16010037 · Diagnostics · 2025-12-22

## TL;DR

A new automated NGS workflow enables rapid genomic profiling in 27 hours within a community hospital, improving access to precision oncology.

## Contribution

Demonstration of a fully automated cfDNA-based NGS workflow in a community setting with a 27-hour turnaround time.

## Key findings

- Pathogenic mutations in KRAS, TP53, and GNA11, plus a PIK3CA copy number gain were detected in a pancreatic cancer patient.
- The workflow required only 40 minutes of hands-on time and no external sample shipment.
- No variants were found in a healthy volunteer, confirming the method's specificity.

## Abstract

Background/Objectives: Conventional next-generation sequencing (NGS) workflows often require more than two weeks to complete, delaying treatment decisions and limiting access to precision oncology in community settings. This report aimed to demonstrate the feasibility of performing rapid, comprehensive cell-free DNA (cfDNA)-based genomic profiling by introducing a fully automated NGS workflow in a community hospital environment. Case Presentation: A postoperative patient with pancreatic ductal adenocarcinoma and liver metastasis underwent cfDNA-based liquid biopsy using plasma collected in PAXgene® Blood ccfDNA Tubes. Gene analysis was performed using the Oncomine Precision Assay GX5 on the Ion Torrent Genexus™ System (Thermo Fisher Scientific). Three pathogenic hotspot mutations—KRAS G12R, TP53 M246I/M246K, and GNA11—and one copy number gain in PIK3CA were identified, whereas no variants were detected in a healthy volunteer control. The total turnaround time from plasma separation to report generation was approximately 27 h, requiring only 40 min of total hands-on time. Discussion: This rapid, automated workflow enabled comprehensive cfDNA analysis within a clinically practical timeframe, overcoming key limitations of conventional multi-step NGS workflows that typically require external sample shipment and specialized personnel. The results confirm the technical feasibility of conducting high-quality molecular testing in a regional hospital setting. Conclusions: This report demonstrates that fully automated cfDNA-based NGS can achieve clinically meaningful genomic profiling within 27 h in a community hospital. This advancement addresses the time and cost barriers of traditional NGS analysis and represents a significant step toward promoting precision medicine in community healthcare.

## Linked entities

- **Genes:** KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845], TP53 (tumor protein p53) [NCBI Gene 7157], GNA11 (G protein subunit alpha 11) [NCBI Gene 2767], PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290]
- **Diseases:** pancreatic ductal adenocarcinoma (MONDO:0005184)

## Full-text entities

- **Genes:** KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, GNA11 (G protein subunit alpha 11) [NCBI Gene 2767] {aka FBH, FBH2, FHH2, GNA-11, HG1K, HHC2}, PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) [NCBI Gene 5290] {aka CCM4, CLAPO, CLOVE, CWS5, HMH, MCAP}
- **Diseases:** pancreatic ductal adenocarcinoma (MESH:D021441), liver metastasis (MESH:D009362)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** M246I, G12R, M246K

## Full text

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## Figures

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## References

32 references — full list in the complete paper: https://tomesphere.com/paper/PMC12785591/full.md

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Source: https://tomesphere.com/paper/PMC12785591