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Scotland: global genetic testing centre

SCOTLAND is set to become a world leader in personalised genetic medicine, with plans to set up a research centre focusing on tailoring healthcare to a patient's DNA make-up.

It was once seen as being in the realms of science fiction, but nearly a decade after researchers successfully decoded the human genome, the idea of prescribing treatment based on an individual's genes is becoming a reality in Scotland.

Advances in technology have meant the cost of carrying out genetic profiling has been slashed from tens of thousands of pounds to just hundreds of pounds.

Health Science Scotland, a body set up by NHS health boards and universities to promote research north of the Border, is now working with major pharmaceutical companies to set up a centre focusing on the field of personalised medicine, the Sunday Herald can reveal.

And the NHS is already making use of "patient-specific" treatments – including a team of medics in Glasgow leading the way globally in the diagnosis of epilepsy through genetic testing.

Graeme Boyle, senior programme manager at Health Science Scotland, said the country was "ideally placed" to be at the forefront of personalised medicine globally.

Researchers would be able to take advantage of factors such as the availability of a wealth of health data and a relatively stable population in Scotland, he said.

Boyle said the research could help to overcome the issue of drugs which costs millions of pounds to develop being taken off the market because they cause harmful reactions in some patients.

"These drugs maybe work for tens, hundreds, maybe millions of people, but there has been adverse events in a small number of people and so it gets withdrawn," he said.

"If you were able to say that person shouldn't be given that drug because of the chance of an adverse event, then that therapy can then still be used. Rather than saying this drug applies across everybody, you can say it actually works very well with that 80% rather than 100% of the population."

One firm at the forefront of the advances in technology is biotechnology company Life Technologies, which has a base in Glasgow.

Peter Silvester, president of Life Technologies for Europe, said its latest model of DNA sequencing machine cost around £150,000, compared with £500,000 just a couple of years ago.

He said: "You are also going to get an answer to your sequencing in about two hours instead of two weeks, and testing a sample is going to cost around £750 versus £20,000 to £30,000."

Silvester said the pace of advancement in the DNA technology was now faster than in the computer industry.

"You wouldn't have been able to dream of having the iPhone five years ago – but sequencing is moving faster than that," he said.

"That is what gives me the confidence and the belief that the long-spoken-about genetic revolution is actually much more likely to become a reality now."

The Glasgow Epilepsy Genetics Service is planning to expand its use of personalised genetic medicine to help NHS patients after recently moving to a new £90 million laboratory at Glasgow's Southern General hospital.

Among the state-of-the art equipment installed in the laboratory is a "next generation sequencer" machine, which can give a read-out of a person's genetic information far quicker than previous technology.

Dr Sameer Zuberi, consultant paediatric neurologist at the Glasgow Epilepsy Genetics Service, said a diagnosis could be made from a simple DNA blood test, rather than children having to undergo invasive tests such as operations or biopsies under anaesthetic.

He said: "Mostly children don't have a family history of epilepsy – although we call it genetic, most of these are new changes in genes.

"Epilepsy is not one condition, it is in fact hundreds of different conditions and they all will have different treatments and outcomes. What we are trying to do with the genetics is make a specific type of targeted diagnosis as early as possible.."

Consultant clinical scientist Nicola Williams, head of laboratory genetics at the Southern General, said work was also under way to use genetic analysis in the diagnosis of cancers to determine the best treatment for patients.

She said: "It means rather than giving a patient chemotherapy treatment that is going to have no effect on them other than making them very, very sick, we can give them other treatment now that may work rather than giving them something which definitely won't.

"We are looking at people's genetic make-up and then tailoring their treatment based on that."

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