DNA profile used to predict risk of disease in ultimate check-up *

Irish Times
30.04.2010
By DICK AHLSTROM

IT PROMISES to be the ultimate health check-up but would you really want to know the results? Scientists have for the first time used a person’s own genetic blueprint to predict their chances of dying from various diseases.

The assessment conducted by a team from Stanford University school of medicine in the US looked at the risks posed by 55 conditions, from obesity, diabetes and schizophrenia to gum disease.

The guinea pig was controversial research scientist Prof Stephen Quake, a professor of bioengineering at Stanford, who received his own lifetime genetic risk profile.

Prof Quake – an apparently healthy 40 year old – had already made headlines in 2009. He sequenced his own genome and then published it for all to see.

Now he and colleagues led by cardiologist Prof Euan Ashley have used his genome to determine the diseases most likely to affect Prof Quake in later life. They will publish their findings in the May 1st issue of the journal Lancet .

Scientists strive to find genes that are linked to specific diseases, hoping that the information might deliver new drugs and therapies.

Stanford researchers spent 18 months collating these discoveries, building up a map showing what genes increased or reduced one’s risk of getting a particular disease.

This was completed at about the time that Prof Quake’s genome became available. So the researchers took the next logical step – to give him the most comprehensive check-up ever attempted.

They devised mathematical tools to seek out genetic pluses and minuses in Prof Quake’s genome. The details tell him what he probably doesn’t want to know: how he is likely to meet his maker.

The team found he had a more than 50 per cent chance of becoming obese and a Type II diabetic and also of developing coronary artery disease.

He also carries a 23 per cent chance of getting prostate cancer, but one shred of good news was that he has a very low risk – about 1.4 per cent – of getting Alzheimer’s disease.

The achievement raises profound ethical issues. Will any insurer now want to give him a life policy? And what of his blood relatives, particularly children, who will share his genetic make-up?

Prof Quake said he was “curious” about what the study would show. “But it is important to recognise that not everyone will want to know the intimate details of their genome.”

One benefit was that they could also identify drugs that would work well or poorly based on his genome. They found he was likely to respond well to cholesterol-lowering statins.

Doctors suggested Prof Quake begin taking them, the first time a clinical recommendation has come from an assessment of a patient’s genome.

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