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Updated: Mar 31, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenomics in the clinic
Mary V Relling1, William E Evans1
1Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA.
Abstract:
After decades of discovery, inherited variations have been identified in approximately 20 genes that affect about 80 medications and are actionable in the clinic. And some somatically acquired genetic variants direct the choice of 'targeted' anticancer drugs for individual patients. Current efforts that focus on the processes required to appropriately act on pharmacogenomic variability in the clinic are moving away from discovery and towards implementation of an evidenced-based strategy for improving the use of medications, thereby providing a cornerstone for precision medicine.
Insights
Pharmacogenomic variations in about 20 genes impact 80 medications, guiding clinical drug choices. Efforts are shifting from discovery to implementing evidence-based strategies for precision medicine.
Area of Science:
- Pharmacogenomics
- Genetics
- Clinical Pharmacology
Background:
- Decades of research have identified inherited genetic variations impacting medication response.
- Approximately 20 genes are known to influence the efficacy and safety of about 80 medications.
- Somatic genetic variants are increasingly used to guide targeted anticancer drug selection.
Purpose of the Study:
- To summarize the current state of pharmacogenomic knowledge and its clinical applications.
- To highlight the transition from genetic discovery to clinical implementation.
- To emphasize the role of pharmacogenomics in advancing precision medicine.
Main Methods:
- Review of identified genetic variations and their associated medications.
- Analysis of current clinical practices and implementation strategies.
- Synthesis of evidence supporting pharmacogenomic-guided therapy.
Main Results:
- Actionable pharmacogenomic information is available for approximately 20 genes affecting 80 medications.
- Somatic genetic variants are crucial for selecting targeted cancer therapies.
- Clinical implementation of pharmacogenomics is a growing focus.
Conclusions:
- Pharmacogenomics is a cornerstone of precision medicine.
- Evidence-based implementation strategies are essential for optimizing medication use.
- Continued efforts are needed to integrate pharmacogenomic variability into routine clinical practice.
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