Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

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...
Pharmacogenetics of Drug Metabolism: Overview01:27

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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

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...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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 Targets01:29

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...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Public attitudes toward cascade genetic screening in the United States.

Health affairs scholar·2026
Same author

The value of innovation in breast cancer treatment: real option value of olaparib for first-line treatment of gBRCA-mutated HER2 negative metastatic breast cancer.

Breast cancer research and treatment·2026
Same author

Using user-centered design to better understand challenges faced during genetic analyses by novice genomic researchers.

Frontiers in bioinformatics·2026
Same author

Analytic Choices Shape Genomic Risk Estimates from Electronic Health Records: Coronary Heart Disease in eMERGE IV.

medRxiv : the preprint server for health sciences·2026
Same author

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments.

American journal of human genetics·2026
Same author

Genetic Testing for APOL1 in Adults With Hypertension: The GUARDD-US Randomized Clinical Trial.

JAMA network open·2026

Related Experiment Video

Updated: Jun 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Expectations, validity, and reality in pharmacogenetics.

Nita A Limdi1, David L Veenstra

  • 1Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294-0021, USA. nlimdi@uab.edu

Journal of Clinical Epidemiology
|December 10, 2009
PubMed
Summary
This summary is machine-generated.

Pharmacogenetics shows promise for drug response prediction, but its clinical utility requires more evidence. Real-world application faces challenges in validating genetic markers for efficacy and adverse drug reactions.

Related Experiment Videos

Last Updated: Jun 17, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

  • Pharmacogenetics
  • Genomics
  • Drug response prediction

Background:

  • Pharmacogenetics offers potential for personalized medicine by linking genetic variations to drug responses.
  • Current applications often rely on associations rather than validated predictive capabilities.

Purpose of the Study:

  • To critically evaluate the expectations, validity, and predictive ability of pharmacogenetics in medication dosing, efficacy, and adverse event prediction.
  • To provide a realistic perspective on pharmacogenetics by examining key examples and their clinical implications.

Main Methods:

  • Review of existing literature on pharmacogenetics.
  • Analysis of three case studies: warfarin dosing, HLA-associated Stevens-Johnson syndrome/toxic epidermal necrolysis, and CYP2D6 in tamoxifen efficacy.

Main Results:

  • Warfarin pharmacogenetics: established genetic variant dose validity but unclear clinical utility.
  • HLA-Stevens-Johnson syndrome/toxic epidermal necrolysis association highlights ethnic roles.
  • CYP2D6 and tamoxifen efficacy: potential utility but unclear validity.

Conclusions:

  • Pharmacogenetic markers require rigorous validation for clinical utility and improved patient outcomes.
  • Challenges include establishing valid associations for clinically meaningful outcomes and demonstrating superiority over current care.
  • Opportunities lie in advancing pharmacogenomic research to overcome these hurdles.