Related Experiment Video
Updated: Mar 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Using CTCs for pharmacogenomic analysis
Christopher D Hart1, Francesca Galardi2, Marta Pestrin1
1Sandro Pitigliani Medical Oncology Department, Hospital of Prato, Via Suor Niccolina 20, Prato 59100, Italy; Breast Cancer Translational Research Unit, Hospital of Prato, Via Suor Niccolina 20, Prato 59100, Italy.
Abstract:
In the era of precision medicine in oncology, pharmacogenomic assessment is a vital step in delivering personalized care. Increasing evidence points towards the importance of assessing molecular features of the advanced disease, rather than relying on the primary tumor sample, in order to appreciate the evolution of the tumor and to target relevant features. Circulating tumor cells (CTCs) represent a novel method of tumor sampling, as they offer a contemporaneous picture of the current disease state without the need for invasive needle biopsy. As they may derive from any number of metastatic sites, the potential to capture the heterogeneity of the disease is increased. Improvements in CTC capture, enrichment and isolation technology now allow sophisticated interrogation of these cells, such that pharmacogenomic assessment of CTCs is now possible, and the clinical potential is being explored. We review current and potential uses for CTCs for pharmacogenomic analysis.
Insights
Pharmacogenomic assessment of circulating tumor cells (CTCs) offers a personalized approach to oncology care. Analyzing CTCs provides a real-time view of advanced cancer, guiding targeted treatments effectively.
Area of Science:
- Oncology
- Pharmacogenomics
- Molecular Diagnostics
Background:
- Precision medicine in oncology necessitates personalized patient care.
- Assessing molecular features of advanced disease is crucial for understanding tumor evolution and guiding therapy.
- Traditional tumor sampling methods may not reflect the current state of advanced or metastatic cancer.
Purpose of the Study:
- To review the current and potential applications of circulating tumor cells (CTCs) for pharmacogenomic analysis.
- To highlight the significance of CTCs as a non-invasive method for molecular profiling in advanced cancer.
Main Methods:
- Circulating tumor cells (CTCs) are proposed as a novel method for tumor sampling.
- CTCs offer a contemporaneous picture of the disease state, overcoming limitations of primary tumor biopsies.
- Advances in CTC capture, enrichment, and isolation technologies enable sophisticated molecular interrogation.
Main Results:
- CTCs can be derived from multiple metastatic sites, potentially capturing tumor heterogeneity.
- Pharmacogenomic assessment of CTCs is now feasible due to technological improvements.
- The clinical utility of CTCs for pharmacogenomic analysis is under active exploration.
Conclusions:
- Circulating tumor cells (CTCs) represent a promising tool for non-invasive, real-time molecular profiling in oncology.
- Pharmacogenomic analysis of CTCs holds significant potential for guiding personalized treatment strategies in advanced cancer.
- Further research is warranted to fully realize the clinical impact of CTC-based pharmacogenomics.
Related Concept Videos
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Pharmacogenetics and Pharmacogenomics: Overview
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

