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Genome-wide cell-free DNA mutational integration enables ultra-sensitive cancer monitoring

Asaf Zviran1,2, Rafael C Schulman1,2, Minita Shah1

  • 1New York Genome Center, New York, NY, USA.

Nature Medicine
|June 3, 2020
PubMed

Insights

This study introduces whole-genome sequencing (WGS) of cell-free DNA (cfDNA) for ultra-sensitive cancer detection. This approach overcomes limitations in tracking low-burden disease, enabling better treatment optimization.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Diagnostics

Background:

  • Sensitive monitoring of low-burden cancer is challenging.
  • Current cell-free DNA (cfDNA) methods using deep targeted sequencing are limited by low tumor fraction and fragment counts.
  • Existing techniques struggle with detecting minimal residual disease.

Purpose of the Study:

  • To develop an ultra-sensitive cfDNA monitoring method for low-burden malignancies.
  • To overcome the limitations of cfDNA abundance and fragment limitations in cancer detection.
  • To enable dynamic tumor burden tracking and improve treatment strategies.

Main Methods:

  • Whole-genome sequencing (WGS) of cfDNA was employed.
  • Genome-wide mutational integration was used to analyze cfDNA.
  • The approach focused on the cumulative signal of thousands of somatic mutations.

Main Results:

  • WGS achieved ultra-sensitive cfDNA detection with tumor fraction sensitivity as low as 10-5.
  • The method enabled dynamic tracking of tumor burden.
  • Postoperative residual disease detection was achieved, correlating with adverse outcomes.

Conclusions:

  • A novel framework for cfDNA cancer monitoring using WGS was established.
  • This genome-wide approach overcomes cfDNA abundance limitations for ultra-sensitive detection.
  • The findings empower treatment optimization in low-disease-burden oncology care.

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