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Updated: Jun 24, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Pharmacogenetics: from discovery to patient care
Jaekyu Shin1, Steven R Kayser, Taimour Y Langaee
1Department of Clinical Pharmacy, School of Pharmacy, University of California, San Francisco, San Francisco, USA. shinj@pharmacy.ucsf.edu
Pharmacogenetics uses genetic variations to predict drug responses, aiding safe and effective medication use. Further research and guidelines are needed for widespread clinical application.
Area of Science:
- Pharmacogenetics and pharmacogenomics
- Biomarker discovery in drug development
Background:
- Over 50 drugs now include pharmacogenetic information on their labeling.
- Genetic variations impact drug pharmacokinetics and pharmacodynamics.
- Pharmacogenomics is recognized by the FDA for expediting drug development.
Purpose of the Study:
- Discuss basic pharmacogenetics concepts.
- Outline pharmacogenetic study approaches.
- Identify factors for applying discoveries in patient care and pharmacist roles.
Main Methods:
- Candidate-gene approach.
- Genome-wide association studies (GWAS).
Main Results:
- Genetic variations in drug disposition and target genes alter drug response.
- Determining optimal drug dosage requires understanding genetic and non-genetic factors.
Conclusions:
- Pharmacogenetics has advanced significantly, improving safe medication use.
- Clinical utility requires further trials, guidelines, and provider education.
Related Concept Videos
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
