For the first time, complete genome of healthy man sequenced, assessed for medical risks

Stanford University researchers analyzed one man's entire genome to find out his risk for certain diseases.
Written by Boonsri Dickinson, Contributing Editor

Stephen Quake knows his biological destiny. How many of us can say that?

I can understand how Quake must be feeling after researchers analyzed his full genome to determine his risk of developing certain diseases later on in life. Since his entire genome was looked at, he probably has a lot to digest.

I had a taste of what that was like when I got a fraction of my DNA sequenced by the major commercial testing companies: 23andMe, DecodeMe, and Navigenics.

But Quake, a bioengineer at Stanford University, had the whole shebang — which makes him the first person to have his full genome gleamed for his risk of certain diseases and checked for his response to medications.

Stanford University School of Medicine researchers took Quake's entire genome and used a computer to assess his risk of developing 55 medical conditions. After looking at Quake's age, gender, and other clinical information, the researchers produced a risk report containing the genomic pioneer's possible disease future.

But the answers to Quake's health risks didn't come quickly. Stanford's bioinformatics professor Atul Butte described the 18 months it took to troll through thousands of publications and put them into one database.

By creating this comprehensive database, researchers looked at Quake's risks and weighed them against other factors. In a statement, the researchers described Quake's genetic workup:

After incorporating information about 18 separate variants from 54 studies, they determined Quake's risk of prostate cancer is actually about 23 percent. The opposite is true for his risk of Alzheimer's disease, which began at 9 percent and ended -- due to the presence of several protective variants -- at about 1.4 percent. The scariest monsters in the closet, however, were obesity, type-2 diabetes and coronary artery disease, each of which Quake has a more than 50 percent chance of developing, and each of which can affect the development of the other.

We get it. It is obvious why such a report would come in handy:

  • Certain drugs might be better suited for your genome.
  • See how obesity or smoking play into a patient's risk for diseases such as heart disease.
  • Allow doctors to keep an eye on patients with a high risk for certain diseases.
  • Allow doctors to avoid giving tests to patients who have a low risk for certain diseases.

Ideally, your doctor would use this personal report to give you the personalized health care you deserve. But that is rather idealistic at the moment. When I showed my doctor my report from Navigenics, he didn't say much.

Even if the reports become more telling of a person's risk for diseases, it will take a while before doctors know how to use this information.

Plus, Hank Greely, a professor at Stanford's Center for Law and the Biosciences, warns that patients and doctors alike would just be inundated with a flood of genetic information.

As the next generation sequencing machines price tag continues to drop towards $1000, it is feasible to think that Quake's experience can one day become mainstream.

Even if the technology ushers an era of personalized medicine, you must ask yourself a deeper question: How much are you willing to know about your biological destiny?

In the meantime, you're better off just focusing on changing some of your bad habits — you should feel guilty if you smoke, drink too much alcohol, don't eat the daily recommended amount of fruit and vegetables, or don't get enough exercise. Seriously, if you don't kick those bad habits soon, they could shed 12 years off your life span!

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This post was originally published on Smartplanet.com

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