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Updated: May 14, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Clinically relevant cancer biomarkers and pharmacogenetic assays
Jai N Patel1, Katherine Mandock, Howard L McLeod
1Division of Pharmacotherapy and Experimental Therapeutics, UNC Eshelman School of Pharmacy, Chapel Hill, NC, USA; UNC Institute for Pharmacogenomics and Individualized Therapy, UNC Eshelman School of Pharmacy, Chapel Hill, NC, USA.
Background:
The number of pharmacogenetic assays available is continuously expanding as more molecularly targeted anticancer drugs are under clinical development. While the literature regarding drug-gene associations and therapeutic implications is often robust, reviews regarding clinical assay availability and profiling methodologies of commonly used cancer biomarkers are often lacking.
Objective:
To concisely identify and describe cancer biomarkers and their respective pharmacogenetic assays currently available in clinical practice.
Discussion:
Analysis of germ-line DNA mutations can often help to predict pharmacokinetic and pharmacodynamic responses, whereas somatic DNA mutations are particularly useful in predicting tumor response. Molecular profiling and pre-emptive identification of cancer biomarkers can help to predict disease prognosis as well as response to anticancer therapy. Dozens of pharmacogenetic assays, utilizing several common methodologies, are currently available in clinical practice. It is essential for clinicians to understand the molecular pathways for anticancer drugs, the therapeutic implications of mutations within these pathways, the clinical assay(s) available to test for pharmacogenetic differences, and the common profiling methodology employed.
Conclusion:
As research continues to unveil more drug-gene and disease-gene associations, it is critical that clinicians understand which pharmacogenetic assays are available to identify inter-individual differences that predict safety and efficacy of anticancer drugs as we move toward the concept of personalized medicine.
Insights
Pharmacogenetic assays are expanding for targeted cancer therapies. Understanding available clinical assays and profiling methods is crucial for predicting patient response and optimizing cancer treatment.
Area of Science:
- Oncology
- Pharmacogenomics
- Clinical Diagnostics
Background:
- The development of molecularly targeted anticancer drugs is increasing the availability of pharmacogenetic assays.
- Literature on drug-gene associations is robust, but reviews on clinical assay availability for cancer biomarkers are lacking.
Purpose of the Study:
- To identify and describe cancer biomarkers and their corresponding pharmacogenetic assays in clinical practice.
Main Methods:
- Review of existing literature and databases on pharmacogenetic assays for cancer biomarkers.
- Analysis of methodologies used in current clinical practice for molecular profiling.
Main Results:
- Dozens of pharmacogenetic assays employing common methodologies are available for clinical use.
- Germ-line DNA mutations predict pharmacokinetic/pharmacodynamic responses; somatic mutations predict tumor response.
- Molecular profiling aids in predicting prognosis and response to anticancer therapy.
Conclusions:
- Clinicians must understand drug-gene pathways, mutation implications, available assays, and profiling methods for effective personalized medicine.
- Knowledge of pharmacogenetic assays is critical for predicting anticancer drug safety and efficacy, advancing personalized cancer care.
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