Implementing circulating tumor DNA analysis in a clinical laboratory: A user manual

Area of Science:

• Oncology
• Molecular Diagnostics
• Genomics

Background:

• Liquid biopsy, analyzing cell-free circulating tumor DNA (ctDNA), is a rapidly advancing field in oncology.
• It offers non-invasive monitoring of tumor genomes for therapeutic guidance and disease surveillance.
• Despite its promise, technical and clinical integration challenges remain.

Purpose of the Study:

• To provide a practical guide for implementing and validating ctDNA testing in diagnostic laboratories.
• To assist clinical oncologists in integrating liquid biopsy applications into patient care.
• To offer recommendations based on literature review and practical experience.

Main Methods:

• Review of current literature on ctDNA analysis and liquid biopsy applications.
• Analysis of technical validation experiences for ctDNA testing methods.
• Focus on gastro-intestinal, lung, and breast cancer applications.

Main Results:

• Liquid biopsy demonstrates utility in therapy selection, treatment response assessment, and residual disease monitoring.
• Challenges in ctDNA analysis include technical hurdles and integration into clinical workflows.
• The review provides actionable advice for laboratory and clinical adoption.

Conclusions:

• Liquid biopsy is a powerful tool for personalized cancer therapy and management.
• Standardization and validation are crucial for widespread clinical adoption of ctDNA testing.
• This guide aims to facilitate the effective use of liquid biopsies in oncology practice.