Bringing Blood-Based Molecular Testing to the Clinic.

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• Plasma-derived cell-free DNA (cfDNA) analysis is emerging as a non-invasive tool in oncology.
• Detecting oncogenic aberrations in cfDNA can guide treatment selection for cancer patients.
• Epidermal growth factor receptor (EGFR) mutation testing in lung cancer using cfDNA is an established alternative to tumor tissue biopsy.

Purpose of the Study:

• To review the utility of plasma cfDNA for detecting oncogenic aberrations in cancer.
• To highlight the current status and future directions of cfDNA testing for various genetic alterations, including copy number alterations.

Main Methods:

• Review of current literature and clinical applications of plasma cfDNA testing in cancer.
• Discussion of approved cfDNA-based tests and ongoing research for other aberrations.

Main Results:

• Plasma cfDNA analysis is a validated method for detecting EGFR mutations in lung cancer, offering an alternative to tissue biopsy.
• Research is actively exploring the detection of other genetic aberrations, such as copy number alterations, in cfDNA for broader clinical application.

Conclusions:

• Plasma cfDNA testing holds significant promise for non-invasive cancer detection and treatment guidance.
• Further investigation into detecting diverse cfDNA aberrations is crucial for expanding its role in precision oncology.