Full genome screened for diseases

A scientist has become the first to have all his DNA screened for unknown disease risk factors
12 April 2012

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 general public within the next decade as the cost of genetic mapping plummets, say 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 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.

Prof Quake, from Stanford University School of Medicine, made headlines last year when he used new technology to sequence his own genome, or genetic code, for less than 50,000 US dollars (£33,000).

The new 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 distant relative in his sleep at the age of 19.

Prof Quake, who is 40, was screened for 55 conditions, ranging from obesity and type-2 diabetes to schizophrenia and gum disease.

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