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Philippa Brice, PhD, is science
policy and dissemination manager for the Public Health Genetics
Unit (part of the Cambridge
Genetics Knowledge Park) where her work focuses on initiatives
to stimulate the transfer of genetics research into clinical practice,
and on the effective communication of genetics based knowledge
to health professionals. She previously worked in biomedical intelligence
in the pharmaceutical industry.
Simon Sanderson, DPH, FFPHM, is
clinical lecturer in primary care genetics in the Department
of Public Health and Primary Care, University of Cambridge and
public
health physician at the Public Health Genetics Unit |
Panel 1: What’s in
a name?
Although the terms “pharmacogenetics” and “pharmacogenomics” are
often used synonymously, there are subtle differences in their meaning.
Pharmacogenetics essentially refers to how a person’s genetic
make-up influences their response to drugs and, in particular,
how specific genes affect the responses to specific drugs or drug
classes.
Pharmacogenomics is a somewhat broader term, referring to the genome-wide
search for genes and associated products (such as enzymes or other
proteins) that may be suitable targets for new drug discovery or
that interact with other genes and environmental factors in determining
drug response. |
SUMMARY
Pharmacogenetics can be defined as the application of genetic analysis
to predict drug response, efficacy and toxicity. More recently, since
completion of the Human Genome Project, the term “pharmacogenomics” has
come into common use (see Panel 1) but in this article, we will continue
to use “pharmacogenetics”.
The discipline of pharmacogenetics dates back to the 1950s with the observation
of variable inherited clinical responses to primaquine, isoniazid and
the anaesthetic
succinylcholine. Primaquine can cause haemolytic anaemia in those with
glucose
6-phosphate dehydrogenase (G6PD) deficiency, isoniazid is likely to cause
more severe side effects in people who are “slow drug metabolisers”,
and patients with a defective metabolising enzyme experience prolonged
muscle relaxation when succinylcholine is used. The DNA (deoxyribonucleic
acid)
sequences of the genes involved, however, have only recently been determined.
Full article PDF 80K |
The
Pharmaceutical Journal