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Explanation of the terms pharmacogenetics and pharmacogenomics

Pharmacogenomics is the genome-wide study of the influence of heredity on drug response. The associated research is aimed at identifying new drug targets and genomic features useful for optimising drug therapy.

Pharmacogenetics is the older term for the study of the influence of heredity on drug response. The term, first proposed in 1956, predates the recent developments in deciphering the human genome. Therefore understandably, the initial emphasis was on single genes, particularly those encoding metabolic enzymes. Many investigators now use the terms pharmacogenetics and pharmacogenomics interchangeably, a practice which we support.

Clinical applications pharm diagram

Clinical applications of pharmacogenomic research include genetic testing of patients to help in:

  • choosing the most appropriate drug for each individual (download factsheets 1,   2, and 8 from the Genomic Basis of Therapeutics series)
  • Identifying those more likely to respond to a particular drug
  • Identifying those at higher risk of specific adverse reactions
  • selecting an optimal dose for each individual

 A case can also be made for extending the scope of pharmacogenomics and pharmacogenetics to include:

  • use of genetic information to develop predictive models for treatment (download factsheet 7 from the Genomic Basis of Therapeutics series)
  • genetic tests to monitor disease progression and therapeutic intervention (download factsheet 7 from the Genomic Basis of Therapeutics series)
  • understanding the genetics of microbes that affect humans including viruses, bacteria and parasites to develop better vaccines and optimise treatment and prevention (download factsheet 4 from the Genomic Basis of Therapeutics series)
  • use of genetic biotechnology to synthesize drugs (download factsheet 4 from the Genomic Basis of Therapeutics series)
  • gene therapy and stem cell therapy (download factsheets  5 and 6 from the Genomic Basis of Therapeutics series)

Drug regulators adopt a more restrictive set of definitions for pharmacogenetics and pharmacogenomics (see www.emea.europa.eu/pdfs/human/ich/43798606en.pdf). They differentiate between DNA and RNA research, defining pharmacogenomics as 'the study of DNA and RNA characteristics as related to drug response' and pharmacogenetics as a subset of pharmacogenomics involved in 'the study of variations in DNA sequence as related to drug response'.

While possibly useful in the assessment of evidence within a legal and regulatory framework in support of applications for marketing authorisation of drugs, these more compartmentalised definitions are less helpful in clinical practice.

 

Last updated: 5 July 2011

Teaching Genetics