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So you got your genome scanned. Now what?

November 12, 2008 | 12:27 pm

These days, courtesy of whole-genome scanning services, you, me or anyone could cough up a thou' or two and find out our genetic predisposition to Alzheimer's disease, colon cancer, heart disease, more. But what would we do with the info? Quit smoking, eat virtuously and go jogging every day at dawn? Slide into depression? Shrug "what the hey" and party, party, party?   

"We have all that potential information to offer people, but it's unknown as to whether it's of benefit," said Dr. Eric Topol, director of Scripps Translational Science Institute in San Diego during a phone call. Now the institute is planning to find out with the help of 10,000 employees, family members and friends of Scripps Health, a nonprofit healthcare delivery network in the San Diego area. Participants get a discounted scan of their genome from Navigenics, one of several companies offering this service. They send off a sample of their saliva and in return, they're tracked for 20 years to see what the news they received did to their lives and their behavior.

As new data roll in on other genetic links to diseases, those will be added to the database -- so people will learn more and more about their disease risks and resilience over time.

Topol already had his DNA scan results and said he was a little bit surprised at the news. Colon cancer runs in his family, but his scan showed he didn't have variants of certain genes that enhance risk for the cancer. "On the other hand, I've spent 25 years on treatment and prevention of heart attacks, and that's where I have a risk."

Ideally, to figure out if the tests had positive or negative effects on people's behaviors, you'd be able to compare them with a group of people who never got the info but would have liked to. Instead, participants will in a sense serve as their own controls: They'll be assessed for their mood, habits and the medical care they seek both before and after they get the scan information.

An interesting fact: Adopted people have been especially keen to enroll in the study, Topol says: "This is the first time they've been able to get any family history about their life, because they don't know their parents at all -- don't know anything about their maternal and paternal blood lines."

You can read more about whole-genome scans in an April Health section article by freelance writer Anna Gosline, who discovered through getting hers that she had a significantly higher lifetime risk for Alzheimer's disease.

-- Rosie Mestel

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