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Genome Scan Gives Man Insight Into Future Health Risks

'We're at the dawn of a new age in genomics,' researcher says

FRIDAY, April 30 (HealthDay News) -- Stephen Quake, a Stanford University professor of bioengineering, now has a very good sense of his own genetic destiny.

Quake's DNA was the focus of the first completely mapped genome of a healthy person aimed at predicting future health risks. The scan was conducted by a team of Stanford researchers and cost about $50,000. The researchers say they can now predict Quake's risk for dozens of diseases and how he might respond to a number of widely used medicines.

This type of individualized risk report could become common within the next decade and may become much cheaper, according to the Stanford team.

"The $1,000 genome [test] is coming fast. The challenge lies in knowing what to do with all that information. We've focused on establishing priorities that will be most helpful when a patient and a physician are sitting together looking at the computer screen," Euan Ashley, an assistant professor of medicine, said in a university news release.

Those priorities include assessing how a person's activity levels, weight, diet and other lifestyle habits combine with his or her genetic risk for, or protection against, health problems such as diabetes or heart attack. It's also important to determine if a certain medication is likely to benefit the patient or cause harmful side effects.

"We're at the dawn of a new age in genomics," Quake said. "Information like this will enable doctors to deliver personalized health care like never before. Patients at risk for certain diseases will be able to receive closer monitoring and more frequent testing, while those who are at lower risk will be spared unnecessary tests. This will have important economic benefits as well, because it improves the efficiency of medicine."

In mapping Quake's genome, researchers designed an algorithm that overlaid his genetic data, on top of what was already known about his health risks based on his age and gender. The analysis focused on 55 conditions, ranging from diabetes and obesity to gum disease and schizophrenia.

The analysis revealed that Quake has a 23 percent risk of prostate cancer and a 1.4 percent risk of Alzheimer's disease. He also has a more than 50 percent chance of developing obesity, type 2 diabetes and coronary artery disease.

However, lifestyle habits can have a strong impact on genetic risk factors, the experts noted.

Speaking to the Associated Press, Quake said that a personal genome reading might not be a great idea for everyone. "All you hear about when they talk about your genome is ways you're going to die and get sick. It doesn't tell you you're going to be happy or a great athlete," he noted. "If you're a worrier, this is not for you."

And another expert unconnected to the research worried about privacy issues. "The genie is now out of the bottle," Nilesh Samani, of the department of cardiovascular sciences at the University of Leicester, told the AP. "We need to think carefully about whether we need laws to prevent genetic information from getting into the wrong hands."

The research was funded by the U.S. National Institute of General Medical Sciences, and the National Heart, Lung and Blood Institute, among others. All the researchers have either financial ties to, or are involved with, genetic testing firms, drug makers or other health industry companies.

The research was released online April 29 and will be published in the May 1 print issue of The Lancet.

More information

The U.S. National Human Genome Research Institute has more about genetic testing.

-- Robert Preidt

SOURCE: Stanford University, news release, April 29, 2010; April 29, 2010, Associated Press

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