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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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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...
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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...
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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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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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Requirements for comprehensive pharmacogenetic genotyping platforms.

Volker M Lauschke1, Magnus Ingelman-Sundberg1

  • 1Section of Pharmacogenetics, Department of Physiology & Pharmacology, Karolinska Institutet, SE-17177 Stockholm, Sweden.

Pharmacogenomics
|June 2, 2016
PubMed
Summary

Comprehensive pharmacogenetic testing using next-generation sequencing (NGS) faces challenges. Current pre-emptive testing should focus on validated variants, reserving comprehensive analysis for retrospective studies of unexpected drug responses.

Keywords:
clinical implementationgenetic variationpersonalized medicinepharmacogenomicsprecision medicine

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Area of Science:

  • Pharmacogenomics
  • Genetics
  • Clinical Chemistry

Background:

  • Rare variants significantly contribute to functional variability in pharmacogenes (30-40%).
  • Next-generation sequencing (NGS) offers potential for cost-effective, comprehensive pharmacogene genotyping.
  • Clinical implementation of comprehensive pharmacogenetic genotyping faces technical, interpretative, and ethical hurdles.

Purpose of the Study:

  • To evaluate the feasibility and limitations of comprehensive pharmacogenetic genotyping in clinical practice.
  • To propose a strategy for integrating rare genetic variation into clinical pharmacogenetic testing.
  • To differentiate between pre-emptive and retrospective applications of comprehensive pharmacogenetic approaches.

Main Methods:

  • Review of current research on rare variants in pharmacogenes.
  • Analysis of challenges associated with comprehensive next-generation sequencing (NGS) implementation.
  • Proposal of a tiered approach for pharmacogenetic variant analysis.

Main Results:

  • Comprehensive pharmacogenetic genotyping, including rare variants, is not yet suitable for routine pre-emptive clinical testing.
  • Validated variants are sufficient for current pre-emptive pharmacogenetic testing strategies.
  • Comprehensive sequencing is valuable for retrospective analysis of patients with unanticipated drug responses.

Conclusions:

  • Current pre-emptive pharmacogenetic testing should be limited to validated variants.
  • Comprehensive pharmacogenetic strategies are best utilized for retrospective analysis to identify and validate new variants.
  • Future pre-emptive genetic testing can be enhanced by incorporating functionally validated emerging variants identified through comprehensive retrospective analyses.