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Blood-Based Multi-Cancer Detection Using a Novel Variant Calling Assay (DEEPGENTM): Early Clinical Results.

Frederic Ris1, Minia Hellan2, Jonathan Douissard1

  • 1Division of Visceral Surgery, Department of Surgery, University Hospital Geneva and Medical School, 1211 Geneva, Switzerland.

Cancers
|August 27, 2021
PubMed
Summary

The DEEPGEN™ liquid biopsy platform shows promise for early cancer detection. This study found it can differentiate cancer patients from healthy individuals, even for early-stage cancers.

Keywords:
DEEPGENTMcancer detectioncancer screeningcell-free DNAearly detectionliquid biopsymachine-learning

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Area of Science:

  • Oncology
  • Genomics
  • Bioinformatics

Background:

  • Early cancer detection significantly improves patient outcomes.
  • Liquid biopsy technologies offer a minimally invasive approach to cancer screening.
  • The DEEPGEN™ platform utilizes cell-free DNA (cfDNA) analysis and machine learning for cancer prediction.

Purpose of the Study:

  • To evaluate the early clinical performance of the DEEPGEN™ platform for cancer detection.
  • To assess the sensitivity and specificity of the DEEPGEN™ platform in a prospective case-controlled study.

Main Methods:

  • A prospective, open-label, case-controlled study (NCT03517332) was conducted.
  • Plasma cfDNA was extracted from 260 cancer patients and 415 controls.
  • Sequencing data were analyzed using machine-learning algorithms to generate cancer prediction scores.

Main Results:

  • The DEEPGEN™ platform achieved 57% sensitivity at 95% specificity for all cancers.
  • For stage 1 cancers, sensitivity was 51% at 95% specificity, with improved sensitivity for higher stages.
  • The platform demonstrated a clinically relevant ability to distinguish between individuals with and without cancer.

Conclusions:

  • The DEEPGEN™ platform shows potential as a tool for early cancer detection.
  • Preliminary results suggest clinical utility in differentiating cancer patients from healthy individuals, including early stages.
  • Further validation in larger cohorts is warranted to confirm these findings.