Scientist is DNA ‘human guinea pig’

A “HUMAN guinea pig” scientist has become the first person in the world to have all his DNA screened for unknown disease risk factors.

The results revealed heightened risks of heart disease, cardiac arrest, diabetes and prostate cancer, as well as information about likely responses to certain medicines.

Similar assessments could be offered to the public within the next decade as the cost of genetic mapping plummets, say the researchers.

Professor Stephen Quake, the American scientist who subjected himself to the test after being counselled about the possible consequences, said: “We’re at the dawn of a new age of genomics. Information like this will enable doctors to deliver personalised healthcare like never before.”

Several of the study authors warned 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.

Prof Quake, from Stanford University School of Medicine, made headlines last year when he used technology to sequence his own genome for less than $50,000 (€37,775).

The study, published in The Lancet medical journal, used Prof Quake’s personal genetic data to make predictions about the fate of his health.

Colleagues examined his genetic profile and combined the results with research information from studies about the genetic causes of different diseases. Aspects of his family history were also taken into account, including the sudden death of a relative in his sleep at the age of 19.

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

For instance, he entered the study with a 16% chance of developing prostate cancer. But after incorporating information about 18 separate genetic variants from 54 studies, Prof Quake’s risk of prostate cancer was 23%.

Conversely, his risk of Alzheimer’s disease began at 9%, but in light of several protective gene mutations was revised down to 1.4%.

The worst news related to obesity, type-2 diabetes and coronary artery disease. He had a more than 50% chance of developing any of these conditions.

Prof Quake said of the findings: “I was curious to see what would show up. But it’s important to recognise that not everyone will want to know the intimate details of their genome.

“There are many ethical, educational and policy questions to be addressed.”

Cardiologist Euan Ashley said:“The $1,000 (€755) genome is coming fast. The challenge lies in knowing what to do with all that information.”