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

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

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

Pharmacogenomics: Identification of New Drug Targets

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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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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

67
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...
67
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

54
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...
54
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

41
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...
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Physicians' pharmacogenomics information needs and seeking behavior: a study with case vignettes.

Bret S E Heale1,2, Aly Khalifa1, Bryan L Stone3

  • 1Department of Biomedical Informatics, University of Utah, 421 Wakara Way, Salt Lake City, UT, 84108, USA.

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Summary

Physicians need better online resources for pharmacogenomics (genetic testing for drug response). Current information is scattered, making it hard to find clinically useful details for patient care.

Keywords:
Access to informationInformation seeking behaviorPharmacogenomicsPhysician information needs assessment

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Area of Science:

  • Pharmacogenomics and clinical genetics
  • Medical informatics and information science

Background:

  • Pharmacogenomics has the potential to significantly improve patient care.
  • Physicians often lack sufficient knowledge to integrate pharmacogenomics into practice.
  • Online resources are crucial for bridging this knowledge gap.

Purpose of the Study:

  • To investigate physicians' information needs and seeking behaviors related to pharmacogenomics.
  • To guide the development of effective online pharmacogenomics information resources for clinicians.

Main Methods:

  • Formative, mixed-method assessment using three pharmacogenomics case vignettes.
  • Observed and recorded interactions of 6 physicians with online pharmacogenomics resources.
  • Analyzed qualitative themes and quantitative data (search duration, navigation, queries).

Main Results:

  • Physicians spent an average of 8 minutes per case, reviewing content for less than 30 seconds.
  • Key information needs included: clinical interpretation of test results, molecular basis of drug response, and logistical details (cost, availability, insurance).
  • Physicians also sought alternative therapies not requiring genetic testing.

Conclusions:

  • Physicians' pharmacogenomics information needs are currently unmet due to dispersed and hard-to-find content.
  • Identified themes can inform the design of user-friendly resources.
  • Improved resources can help physicians apply pharmacogenomics in patient care.