Mapping the human genome in 15 minutes


On the outside, it looks like a copier from the 70's, but the technology inside this case, could soon revolutionize medicine by giving doctors your entire genetic map.

"Right now, today for you to get sequenced it would take about six months, and there would be 150 machines working nonstop," said Pacific Biosciences CEO Hugh Martin.

But Martin says his company's technology will shatter that time frame. To understand how it works, it helps to remember that when human cells divide, an enzyme reads your DNA, then builds an exact copy.

Martin says technicians at the Menlo Park lab have synthesized that enzyme that reads and copies the DNA in human cells, placing thousands of them on a specially designed chip. The surface is then magnified on the screen.

"Each of these little squares here has 5,000 of those holes. So inside that array we have 5,000 of these enzymes replicating DNA," said Martin.

Technicians place the genetic sample they want to decode on the chip along with the enzymes, plus a solution to keep them in balance.

The chip itself is tiny and the real breakthrough is how researchers have learned to spy on the enzyme inside, as it builds a copy of your DNA.

Just four base building blocks make the millions of combinations found in your DNA. Researchers at Pacific Biosciences have figured out how to sequence genes by tweaking those buidling blocks before they're added to the chip.

"We label them with four different fluorescent dyes. And so we shine lasers on it while its working, and whatever base it grabs, we see in the form of a flash. red flash green flash, yellow flast and that tells us which base it just incorporated," said Martin.

High speed photon cameras capture the colored flashes, and send the information to cutting edge processors, that actually have to slow down the information so computers can write it to a hard disk.

Ultimately, software reconstructs the exact sequence of your personal genetic blueprint -- all at speeds that are mind boggling.

"In five years, this desktop machine will sequence you in 15 minutes for less than $1,000," said Martin.

Information that could allow scientists to find disease causing mutations long before problems arise, making truly personalized medicine a reality.

The company is hoping to have the machine on the market within five years. They say the final version is expected to be about the size of a microwave oven.

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