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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

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Updated: May 11, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

A clinical approach to pharmacogenetics.

L C G de Graaff¹, R H N van Schaik, T van Gelder

¹Department of Internal Medicine, Erasmus MC, Rotterdam, The Netherlands. l.degraaff@erasmusmc.nl

The Netherlands Journal of Medicine

|May 29, 2013

Summary

Clinicians need pharmacogenetic knowledge to prevent adverse drug reactions (ADRs). This study highlights pharmacogenetic testing, including HLA genotyping, for safer carbamazepine use and proposes a clinical decision model.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

Area of Science:

Pharmacogenetics
Clinical Pharmacology
Genomics

Background:

Adverse drug reactions (ADRs) are frequent in clinical practice.
Growing knowledge of genetic mechanisms underlying ADRs necessitates clinician education in pharmacogenetics.
Many clinicians remain unaware of pharmacogenetic testing's potential and its integration into daily practice.

Observation:

A case of Stevens-Johnson syndrome in a patient treated with carbamazepine is presented.
Pharmacogenetic testing (HLA-B*1502 and HLA-A*3101) possibilities are discussed in relation to the case.
Relevant pharmacological and pharmacogenetic aspects for clinicians are detailed, including ADR subtypes, cytochrome P450 (CYP450) enzymes, drug-drug interactions, and genetic variations.

Findings:

Data on CYP450 and HLA genotypes relevant to the 100 most prescribed drugs in the Netherlands are provided.
The availability and costs of pharmacogenetic testing are discussed.
A calculation of the 'number needed to genotype' is presented.

Implications:

A decision model for pharmacogenetic testing by clinicians is proposed.
Enhanced understanding and application of pharmacogenetics can improve patient safety and reduce ADRs.
Integration of pharmacogenetic testing into routine clinical practice is advocated.