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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...
253
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...
121
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

159
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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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

194
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...
194
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
81
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

138
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...
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Pharmacogenomics in oncology care.

Kelly K Filipski1, Leah E Mechanic1, Rochelle Long2

  • 1Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute Rockville, MD, USA.

Frontiers in Genetics
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PubMed
Summary

Cancer pharmacogenomics advances personalized medicine by analyzing genetic mutations for treatment decisions. This review explores how observational and adaptive trials, alongside next-generation sequencing, build evidence for clinical use.

Keywords:
germlinepharmacogeneticspharmacogenomicssomatictargeted therapy

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Area of Science:

  • Pharmacogenomics
  • Oncology
  • Translational Medicine

Background:

  • Cancer pharmacogenomics has significantly impacted cancer treatment paradigms.
  • Understanding somatic and germline mutations is crucial for cancer biology and treatment response.
  • Randomized control trials (RCTs) have traditionally been the benchmark for clinical evidence.

Purpose of the Study:

  • To review alternative evidence-generation methods for clinical pharmacogenomics.
  • To discuss the role of observational studies and adaptive trials.
  • To explore the contribution of next-generation sequencing (NGS) in advancing clinical implementation.

Main Methods:

  • Literature review of pharmacogenomic evidence generation.
  • Analysis of the utility of observational studies in clinical settings.
  • Evaluation of adaptive trial designs for pharmacogenomic research.
  • Assessment of next-generation sequencing technologies.

Main Results:

  • Pharmacogenomic discoveries are reshaping cancer treatment strategies.
  • Somatic and germline mutations provide insights into cancer growth and drug response.
  • Alternative study designs are being explored to meet evidence requirements for clinical adoption.

Conclusions:

  • The integration of pharmacogenomics into routine cancer care requires robust evidence.
  • Observational studies, adaptive trials, and NGS are key to building this evidence base.
  • These approaches facilitate the translation of pharmacogenomic discoveries into clinical practice.