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Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and Pharmacogenomics: Overview

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...

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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...

Pharmacogenomics: Identification of New Drug Targets

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Pharmacogenetics of Drug Metabolism: Overview

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...

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Updated: May 29, 2026

Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System

Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System

Published on: December 11, 2016

Pharmacogenetics: past, present and future.

Munir Pirmohamed¹

¹The Wolfson Centre for Personalised Medicine, Department of Pharmacology, University of Liverpool, 1-5 Brownlow Street, Liverpool L693GL, UK. munirp@liv.ac.uk

Drug Discovery Today

|September 3, 2011

Summary

This summary is machine-generated.

Pharmacogenetics research reveals why drug responses vary between individuals. Translating these genetic discoveries into clinical practice requires overcoming significant translational gaps for better patient care.

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Last Updated: May 29, 2026

Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System

Drug Repurposing Hypothesis Generation Using the "RE:fine Drugs" System

Published on: December 11, 2016

Area of Science:

Pharmacogenetics and Pharmacogenomics
Genomics and Personalized Medicine

Background:

Pharmacogenetics has a long history of fundamental discoveries explaining individual differences in drug handling and response.
Despite significant research, limited pharmacogenetic knowledge has been translated into routine clinical practice.
Most clinically relevant drug-gene associations have not progressed to widespread clinical adoption.

Purpose of the Study:

To explore the historical development of pharmacogenetics.
To critically appraise the current status of pharmacogenetic research.
To propose strategies for advancing pharmacogenetics from discovery to clinical application.

Main Methods:

Historical review of pharmacogenetics research.
Analysis of current research trends and challenges in the field.
Identification of translational gaps hindering clinical implementation.

Main Results:

Advances in genomics since 2000 offer new opportunities to understand drug response variability.
A systematic approach is needed to bridge the gap between biomarker discovery and clinical practice.
Current clinical integration of pharmacogenetic findings remains limited.

Conclusions:

Translating pharmacogenetic discoveries into clinical practice is crucial for personalized medicine.
Overcoming translational barriers requires a structured, evidence-based approach.
Future progress depends on addressing challenges in biomarker validation and clinical utility assessment.