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Updated: May 1, 2010 21:51 IST

Personalised genetic medicine a step closer to reality?

PTI
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Computer artwork of a double- stranded DNA (deoxyribonucleic acid) helix. The sequence of the base groups along the DNA helix is known as the genetic code, which carries instructions necessary for the development and function of all living organisms. Photo: Special Arrangement
Computer artwork of a double- stranded DNA (deoxyribonucleic acid) helix. The sequence of the base groups along the DNA helix is known as the genetic code, which carries instructions necessary for the development and function of all living organisms. Photo: Special Arrangement

Personalised genetic medicine is a step closer to reality, says a scientist, who claims to have all his DNA screened for diseases as well as susceptibility to treatments.

The results, which revealed risks of heart disease, diabetes and prostate cancer, may pave the way to similar tests for people within the next decade, according to Stephen Quake of Stanford University who spent 33,000 pounds having his genetic make-up mapped and then analysed for diseases.

“We’re at dawn of a new age of genomics. Information like this will enable doctors to deliver personalised health care like never before,” Professor Quake was quoted by ‘The Daily Telegraph’ as saying.

In fact, his new study, published in ‘The Lancet’ medical journal, claims to have accurately evaluated the risks of a number of diseases.

Prof Quake, who is 40, was screened for 55 conditions, ranging from obesity and type-2 diabetes to schizophrenia and gum disease. In some cases, the normal risk of developing a certain condition for a man of his age was scaled down, and in other cases up.

The worst news related to obesity, type-2 diabetes and coronary artery disease. Professor Quake was found to have a more than 50 per cent chance of developing any of these conditions, each of which could affect development of other.

He also had rare variants in three genes associated with sudden cardiac death. Several genetic variants were associated with a good response to cholesterol-reducing statins, while one suggested he might need a higher than normal dose of these drugs.

Another mutation indicated that he could be resistant to the clot-busting drug clopidogrel. Other variations pointed to a need for reduced doses of a blood-thinning drug.

“It’s certainly been interesting. I was curious to see what would show up. There are many ethical, educational and policy questions that need to be addressed going forward,” Prof Quake said.

However, experts have warned that major ethical challenges lay ahead and questioned the wisdom of placing no limits on uncovering such sensitive information.

Professor Henry Greely of Stanford Law School in California said, “The experience with Steve Quake’s genome shows we need to start thinking, hard and soon, about how we can deal with that information.”



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