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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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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...
248
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
137
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

157
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...
157
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

191
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...
191
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

337
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...
337
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

119
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...
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Infinium Assay for Large-scale SNP Genotyping Applications
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Inconsistency in large pharmacogenomic studies.

Benjamin Haibe-Kains1, Nehme El-Hachem2, Nicolai Juul Birkbak3

  • 11] Institut de Recherches Cliniques de Montréal, University of Montreal, Montreal, Quebec, Canada [2] Ontario Cancer Institute, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario M5G 2M9, Canada.

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Two pharmacogenomic studies showed similar genomic data but highly discordant drug response data. This inconsistency raises concerns for assessing gene-drug links and selecting cancer drugs.

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Drug Discovery

Background:

  • Recent large-scale pharmacogenomic studies offer valuable data for understanding drug response.
  • Genomic data consistency across studies is crucial for reliable research.
  • Drug response variability presents a challenge in pharmacogenomic research.

Purpose of the Study:

  • To compare genomic data and drug response measurements between two large-scale pharmacogenomic studies.
  • To identify potential reasons for discordance in drug response data.
  • To evaluate the implications of data inconsistencies for future pharmacogenomic research and drug development.

Main Methods:

  • Comparative analysis of genomic datasets from two independent studies.
  • Analysis of drug response measurements reported in both studies.
  • Literature review to identify potential sources of variability.

Main Results:

  • Genomic data were highly correlated between the two studies.
  • Drug response data exhibited significant discordance between the studies.
  • The source of the observed inconsistencies in drug response remains undetermined.

Conclusions:

  • Despite consistent genomic data, discordant drug response measurements pose challenges.
  • Inconsistencies may impact the assessment of gene-drug associations.
  • Further investigation is needed to resolve discrepancies and ensure the reliability of pharmacogenomic data for clinical applications and drug selection.