Geneticist's 'personalized medicine' study focuses on himself

Posted: March 17, 2012 at 4:42 am

Self-experimentation is a venerable tradition in science.

London surgeon John Hunter deliberately gave himself gonorrhea (and inadvertently, syphilis) in 1767 and suffered from effects of the diseases in his old age.

Now Michael Snyder has joined their ranks.

The geneticist didn't risk life and limb, but he did sacrifice his privacy inviting colleagues to sequence his DNA and track tens of thousands of markers in his blood over a period of 14 months, when he was sick and when he was well, ultimately crunching billions of measurements on the molecular details of his body.

Some of the results came as big, and not very welcome, surprises, uncovering, among other things, that he was at risk for Type 2 diabetes, and capturing the precise moments when the disease took hold in his body.

Snyder, who heads the genetics department at Stanford University's medical school, says the work is more than just a curiosity. He thinks that his experiment, published Thursday in the journal Cell, offers a taste of what medicine may be like someday for everyone.

Physicians talk often about "personalized medicine": the idea that therapies should be tailored to each patient's unique genetic and medical profile. Doctors already practice a sort of personalized medicine when they "type" a tumor to find the most effective chemotherapy drug. Someday, scientists like Snyder say, it will be a routine part of prevention too.

But if the gantlet his team ran is any indication, that day isn't upon us yet.

First, the researchers sequenced Snyder's genome the 6 billion letters of his DNA blueprint several times over, to assess his risk for various conditions. (And they sequenced Snyder's mother's genome as well, to learn which genes he got from each parent.) They drew Snyder's blood regularly to see how proteins, RNA and a swath of other chemicals in his body increased or decreased when he was in good health and bad his "omics" profile. They monitored his immune system and other health measures.

"Your genome shows what you're predisposed for. Your 'omics' profile tells you what's really going on," Snyder said. "This is a whole new level."

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Geneticist's 'personalized medicine' study focuses on himself

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