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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

142
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...
142
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

111
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...
111
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

109
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...
109
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

76
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...
76
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

94
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...
94
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

155
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...
155

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Evidence-based pharmacogenetics: Is it possible?

D A Sychev1,2, E U Malova1,2

  • 1Russian Medical Academy of Post-Graduate Education (RMAPE), Moscow, Russia.

The International Journal of Risk & Safety in Medicine
|December 8, 2015
PubMed
Summary

Pharmacogenetic testing uses genetic information to guide drug therapy, showing increased research interest. While evidence quality varies, it is most suitable for patients at high risk of adverse drug reactions.

Keywords:
Pharmacogeneticsevidencepersonalized medicine

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Area of Science:

  • Genomic Medicine
  • Personalized Medicine
  • Pharmacogenetics

Background:

  • Health systems are shifting towards personalized medicine for improved care quality, safety, and efficiency.
  • Pharmacogenetic testing, a key component of personalized medicine, uses genetic information to guide drug therapy.
  • Russia has prioritized genomic studies and developed a strategy for personalized medicine.

Purpose of the Study:

  • To assess the utilization of genetic testing for optimizing medication use.

Main Methods:

  • Searches of PubMed and E-Library databases were conducted for the period 2004-2015.
  • The study analyzed publication trends and the quality of evidence for pharmacogenetic testing.

Main Results:

  • A significant increase in publications on pharmacogenetics was observed between 2004 and 2015.
  • While research interest is growing, the quality of evidence for pharmacogenetic testing is often inconsistent.
  • High-quality evidence exists for specific pharmacogenetic tests (e.g., clopidogrel, abacavir), supporting their inclusion in clinical guidelines.

Conclusions:

  • Inconsistent evidence limits the widespread clinical application of pharmacogenetic testing.
  • Pharmacogenetic testing is most appropriate for managing patients with a high risk of adverse drug reactions.