Pharmacogenetics and pharmacogenomics: Development, science, and translation

Research output: Chapter in Book/Report/Conference proceedingChapter

136 Scopus citations


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)
Title of host publicationAnnual Review of Genomics and Human Genetics
EditorsAravinda Chakravarti, Eric Green
Number of pages23
StatePublished - 2006

Publication series

NameAnnual Review of Genomics and Human Genetics
ISSN (Print)1527-8204


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

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)


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