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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenetics and clinical gastroenterology
Raymond C Givens1, Paul B Watkins
1General Clinical Research Center, University of North Carolina at Chapel Hill, 27514, USA.
Gastroenterology
|July 10, 2003
Summary
Pharmacogenetics studies how genes affect drug response, impacting clinical practice. Thiopurine S-methyltransferase screening exemplifies its potential and challenges in personalized medicine.
Area of Science:
- Pharmacogenetics
- Clinical Pharmacology
- Gastroenterology
Background:
- Drug efficacy and toxicity vary significantly among individuals.
- Pharmacogenetics investigates the genetic basis for these variable drug responses.
- Emerging pharmacogenetic testing is poised to influence clinical practice, particularly in gastroenterology.
Purpose of the Study:
- To highlight the growing role of pharmacogenetics in clinical decision-making.
- To discuss the implications of pharmacogenetic testing in gastroenterology.
- To examine the promise and limitations of pharmacogenetics using thiopurine S-methyltransferase screening as an example.
Main Methods:
- Review of pharmacogenetic principles and their clinical applications.
- Discussion of thiopurine S-methyltransferase (TPMT) screening as a model.
- Consideration of other relevant drug metabolism pathways.
Main Results:
- Pharmacogenetic testing is increasingly entering clinical practice.
- Thiopurine S-methyltransferase screening is likely to become standard for patients receiving thiopurines.
- Variations in other drug metabolism pathways may also gain clinical relevance.
Conclusions:
- Pharmacogenetics offers a powerful tool to personalize drug therapy.
- While promising, pharmacogenetics has limitations and will complement, not replace, traditional approaches.
- The integration of pharmacogenetics into gastroenterology will refine drug selection and dosing strategies.
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