Pharmacogenetics and pharmacogenomics: Development, science, and translation

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129 Citations (Scopus)

Abstract

Pharmacogenetics and pharmacogenomics involve the study of the role of inheritance in individual variation in drug response, a phenotype that varies from potentially life-threatening adverse drug reactions to equally serious lack of therapeutic efficacy. This discipline evolved from the convergence of rapid advances in molecular pharmacology and genomics. Originally, pharmacogenetic studies focused on monogenic traits, often involving genetic variation in drug metabolism. However, contemporary studies increasingly involve entire "pathways" encoding proteins that influence both pharmacokinetics- factors that influence the concentration of a drug reaching its target(s)-and pharmacodynamics, the drug target itself, as well as genome-wide approaches. Pharmacogenomics is also increasingly moving across the "translational interface" into the clinic and is being incorporated into the drug development process and the governmental regulation of that process. However, significant challenges remain to be overcome if pharmacogenetics- pharmacogenomics is to achieve its full potential as a major medical application of genomic science.

Original languageEnglish (US)
Pages (from-to)223-245
Number of pages23
JournalAnnual Review of Genomics and Human Genetics
Volume7
DOIs
StatePublished - 2006

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Pharmacogenetics
Pharmaceutical Preparations
Pharmacodynamics
Genomics
Drug-Related Side Effects and Adverse Reactions
Pharmacokinetics
Medical applications
Metabolism
Genome
Pharmacology
Phenotype
Genes
Proteins
Pharmacogenomic Testing

Keywords

  • 6-mercaptopurine
  • Azathioprine
  • Gefitinib
  • Isoniazid
  • Single nucleotide polymorphism
  • Succinylcholine
  • Thiopurines
  • Warfarin

ASJC Scopus subject areas

  • Genetics(clinical)
  • Biochemistry
  • Genetics

Cite this

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