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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

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

Pharmacogenomics: Identification of New Drug Targets

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

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

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

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

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 isoenzymes,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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Related Experiment Video

Updated: Jun 14, 2026

Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
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Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack

Published on: May 15, 2020

Psychiatric pharmacogenomic testing in clinical practice.

David A Mrazek1

  • 1Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota, USA. mrazek.david@mayo.edu

Dialogues in Clinical Neuroscience
|April 9, 2010
PubMed
Summary

Psychiatric pharmacogenomic testing, including genes like CYP2D6 and SLC6A4, is rapidly advancing. This genetic information helps personalize psychotropic medication selection and dosing for better patient outcomes.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

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Implementation of a Real-Time Psychosis Risk Detection and Alerting System Based on Electronic Health Records using CogStack
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Pharmacogenomics
  • Psychiatric Genetics
  • Clinical Pharmacology

Background:

  • Clinical adoption of psychiatric pharmacogenomic testing has surged in the last 7 years.
  • Initial focus was on drug-metabolizing enzyme genes, such as cytochrome P450 2D6 (CYP2D6).
  • More recently, genes affecting drug response (pharmacodynamics), like the serotonin transporter gene (SLC6A4), are incorporated.

Purpose of the Study:

  • To review the evolution and current state of psychiatric pharmacogenomic testing.
  • To highlight the utility of genotyping key genes for guiding psychotropic medication use.
  • To discuss the ongoing assessment of clinical utility and ethical considerations.

Main Methods:

  • Review of clinical adoption trends in psychiatric pharmacogenomics.
  • Identification of key genes (e.g., CYP2D6, SLC6A4) and their clinical relevance.
  • Discussion of evolving methodologies for quantifying clinical utility.

Main Results:

  • Genotyping CYP2D6 identifies poor and ultrarapid metabolizers, aiding medication management.
  • Variants in SLC6A4 influence treatment response to selective serotonin reuptake inhibitors in specific populations.
  • Genotyping of serotonin receptor genes is also becoming available.

Conclusions:

  • Psychiatric pharmacogenomic testing is increasingly integrated into clinical practice.
  • Cost-effectiveness is driving predictions of routine use for psychotropic medication selection and dosing.
  • Ongoing research is refining the clinical utility and ethical frameworks for these tests.