BioWorld International Correspondent

LONDON - Pharmacists in the UK were treated to the first practical demonstration of how the billions spent on the Human Genome Project will change the way health care is delivered, at their annual conference last month.

Using his own DNA, Gareth Roberts, medical director of Sciona Ltd., a company specializing in personalized pharmacogenomics, demonstrated how an individual's DNA profile could be used to avoid adverse reactions and improve prescription of currently marketed drugs.

Sciona has developed a test kit it claims is the first working system for personalized medicine. From a cheek swab, it can test for 33 variations in 13 genes that affect the adsorption, distribution, metabolism and excretion (ADME) of more than 300 drugs, covering 70 percent of the top drugs prescribed in the UK.

Roberts' ADME profile shows he has a polymorphism in the gene NAT2, which means he is a slow acetylator. That has implications for a number of drugs; for example, he is likely to be hypersensitive to sulphonamides, suffering fever, skin rashes and generalized toxicity.

Conversely, Roberts' CYP2C9 phenotype shows he is a rapid metabolizer of ibuprofen and may therefore observe a reduced therapeutic effect.

Other genes covered currently include CYP2D6, which affects the rate of metabolism of antidepressants, and an ApoE4 polymorphism that predicts a poor response to cholesterase inhibition.

Roberts told BioWorld International, "At present, a significant proportion [of patients] do not get the best treatment first time, a proportion get the wrong treatment first time, and the delay in getting the right treatment causes further deterioration. The vision is to be checked for polymorphisms and choose drugs and dosage accordingly."

Almost all drugs on the market have some data on drug-gene interactions. What Sciona has done is trawl the literature to pull all the data together, and set up an accurate and sensitive gene-profiling facility to analyze individual DNA samples.

"Pharmacogenomics has been portrayed as something that would inform the development of new drugs," Roberts said. "We have come from completely the opposite end of the spectrum."

Roberts said delegates at the British Pharmaceutical Conference in Manchester "were stunned by the test kit. Although they understand the significance of pharmacogenomics, they thought it was something five to six years out and were surprised to hear it could be applied today via a cheek swab, with no high-tech investment from them."

However, Sciona is unsure about how to market the kit. Earlier this year the company was forced to withdraw its first product, a consumer gene-testing kit that screened for polymorphisms affecting metabolism and provided personalized nutrition and dietary advice based on the screen, after protests from genetic interest groups.

"Presenting the drug metabolism test kit showed pharmacists it is an idea that is ready to go," Roberts said. "The question is, who wants to use it?"

Sciona, based in Havant, also is in the process of approaching primary-care doctors and the UK Department of Health to demonstrate the kit.

Overall, Sciona's gene-profiling system can detect variants in 2,500 genes, providing medically relevant information in 16 disease areas, including cancer, cardiovascular disease and central nervous system diseases. The company plans to produce a test kit in each disease area, of which the ADME kit is the first.