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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...
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...
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...
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...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Biobank for Translational Medicine: Standard Operating Procedures for Optimal Sample Management
08:01

Biobank for Translational Medicine: Standard Operating Procedures for Optimal Sample Management

Published on: November 30, 2022

Biobanking and pharmacogenomics.

Catherine A McCarty1, Russell A Wilke

  • 1Marshfield Clinic Research Foundation, Center for Human Genetics, Marshfield, WI 54449, USA. mccarty.catherine@mcrf.mfldclin.edu

Pharmacogenomics
|April 27, 2010
PubMed
Summary
This summary is machine-generated.

Advances in pharmacogenomics are improving drug outcome prediction. Larger studies using electronic health records are identifying genetic factors and gene-environment interactions for reproducible results.

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Drug Discovery and Development

Background:

  • The study of genetic determinants of drug outcomes is a rapidly advancing field.
  • Early successes focused on candidate pharmacokinetic genes and adverse drug reactions, especially for drugs with narrow therapeutic indices.
  • However, the effect size of genetic predictors has often been small.

Purpose of the Study:

  • To address the challenge of small effect sizes in genetic predictors of drug outcomes.
  • To leverage increasing cohort sizes and genome-wide approaches for identifying genetic factors.
  • To utilize electronic health records and longitudinal data for characterizing genetic influences on drug response.

Main Methods:

  • Studying larger numbers of gene variants, often at the genome-wide level.
  • Utilizing large cohorts with increasing sample sizes.
  • Employing electronic health records and practice-based datasets with longitudinal data.

Main Results:

  • The study highlights the trend towards larger-scale genetic analyses.
  • Electronic health records are increasingly instrumental in pharmacogenomic research.
  • Longitudinal data facilitates the characterization of genetic factors with small but reproducible effects.

Conclusions:

  • Advances in pharmacogenomics are enabling the identification of genetic factors influencing drug outcomes.
  • Large-scale studies and electronic health records are crucial for detecting subtle genetic effects.
  • Future research can characterize gene-environment interactions affecting drug response using practice-based longitudinal data.