stephen quake

Stephen Quake brought the holy grail of personalised medicine a step closer after having all his DNA screened for diseases and susceptibility to treatments. 

A scientist has brought the holy grail of personalized medicine a step closer after having all his DNA screened for diseases and susceptibility to treatments.  Professor Stephen Quake, at Stanford University, spent $50,000 having his genetic make up mapped and then analysed for different diseases and sensitivity to medication.


The results, which revealed risks of heart disease, diabetes and prostate cancer, could pave the way to similar tests for the general public within the next decade, especially as the cost of genetic mapping is expected to plummet.

Professor Quake, said: “We’re at the dawn of a new age of genomics. Information like this will enable doctors to deliver personalised health care like never before.”

Several of the study authors warned that major ethical challenges lay ahead and questioned the wisdom of placing no limits on uncovering such sensitive information.

Professor Henry Greely, from Stanford Law School in California, said patients, doctors and geneticists are about to be hit by a “tsunami” of genetic data.

“The experience with Steve Quake’s genome shows we need to start thinking – hard and soon – about how we can deal with that information,” he added.

When the first human genome was mapped in 2003 it cost an estimated £1 billion to decipher. Since then prices have dropped and within 10 years it could cost as little as £650.

But hopes that it could prove a “cure-all” for the world’s ills have also been dashed. Apart from a few rare inherited diseases, scientists have discovered that conditions are much more complicated than first thought.

Many individual genes say little about the real risk of illness, and they found diet and the environment had a significant influence on the development of disease.

But the 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 the development of the 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 the blood-thinning drug warfarin.

Prof Quake said of the findings: “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.”

Via Telegraph