Related Experiment Video
Updated: May 17, 2026

Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System
Published on: December 11, 2016
Pharmacogenomics in clinical practice and drug development
Andrew R Harper1, Eric J Topol
1Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
Genome-wide association studies (GWAS) have identified patient subgroups benefiting from specific drugs. However, translating these genetic findings into clinical practice for most medications remains a challenge, hindering personalized medicine.
Area of Science:
- Pharmacogenomics
- Genetics
- Drug Development
Background:
- Genome-wide association studies (GWAS) have identified genetic variants influencing drug response for specific medications like clopidogrel.
- Despite identifying patient subgroups benefiting from certain therapies, these findings are not widely integrated into clinical practice.
Purpose of the Study:
- To highlight the gap between genetic discoveries in drug response and their clinical implementation.
- To emphasize the potential of pharmacogenomic analysis for improving drug efficacy and safety.
Main Methods:
- Review of existing genome-wide association studies (GWAS) on drug response.
- Analysis of the translation status of identified genetic variants in clinical practice.
Main Results:
- Few common sequence variants with significant odds ratios (>3.0) for drug efficacy or safety have been translated into clinical practice.
- A large number of commonly used medications lack comprehensive pharmacogenomic analysis.
Conclusions:
- There is a significant unmet need for integrating pharmacogenomic findings into routine medical care.
- Adoption of GWAS, exome, or whole genome sequencing presents a key opportunity to enhance drug development and optimize existing medications.
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 Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
