Pharmacogenetics on the
high street
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Jessica Clemerson is senior lecturer
in pharmacy practice at the University of Sunderland and practice
pharmacist for the Falcon
Medical Group, Newcastle-upon-Tyne
Katherine Payne is a senior research
fellow in health economics at the University of Manchester |
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Rich Legg/iStockphoto.com

Hospital laboratories must detect overexpression
of HER2 in the DNA of breast cancer tumour cells before the patient
can be prescribed trastuzumab |
SUMMARY
Pharmacogenetics explores the role of the single nucleotide polymorphisms
(SNPs) (see Panel 1) in the genes that encode drug metabolising enzymes,
drug receptors, drug transporters and other proteins involved in the pathogenesis
of a disease in determining a patient’s response to a drug.
It also
describes the identification of the genetic make-up of tumour cells.
Although pharmacogenetic testing is still in early development, there
is evidence that the safety and effectiveness of some drugs can be improved
by pharmacogenetic testing.
Such drugs include:
- Trastuzumab
- Thiopurines
- Irinotecan
- Abacavir
- Warfarin
- Tamoxifen
Pharmacogenetics on the
high street
The NicoTest is a prognostic test that offers patients
who are attempting to
quit smoking a personalised treatment regimen.
Individual variation in the rate at which smokers metabolise nicotine
contributes to their response to nicotine replacement therapy. The
unpredictability of this response may be partially attributed to
genetic variation, such as CYP2D6 polymorphisms.
After purchasing the test kit, patients complete a questionnaire
and return it to the manufacturer with a buccal swab. After analysis
of the resulting genetic information, a personalised treatment regimen
is recommended.
The manufacturer is undertaking a trial in several community pharmacies
across Essex and London, and says the early results show patient
outcomes to be significantly improved by using the test.
The test costs about £150 and is currently paid for by the
patient.
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