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Genome Sequencing Gets More Affordable

MONDAY Aug. 10, 2009 -- A U.S. researcher says he was able to sequence his entire genome for less than $50,000, with the help of only two people.

"This is the first demonstration that you don't need a genome center to sequence a human genome," Stephen Quake, a professor of engineering at Stanford University, said in a news release from the school. "It's really democratizing the fruits of the genome revolution and saying that anybody can play in this game."

The first complete mappings of human DNA were achieved in 2001. Each completed genome cost hundreds of millions of dollars and required more than 250 people. Even in 2008, the lowest reported cost of sequencing a human genome was $250,000 and still required almost 200 people.

Quake's genome was sequenced using a commercially available, refrigerator-sized instrument called the Helicos Biosciences SMS Heliscope. Quake pioneered the underlying technology of the instrument and is co-founder of the company.

The study appeared online Aug. 9 in the journal Nature Biotechnology.

"This can now be done in one lab, with one machine, at a modest cost. It's going to unleash an enormous amount of creativity and really broaden the field," Quake said.

Lowering the cost and effort involved in sequencing individual human genomes is important for a number of reasons, said Quake. The more examples of whole human genomes scientists have, the more they can learn about how specific genes and mutations result in certain traits, diseases and responses to medicines.

As the cost of determining an individual's genetic code decreases, doctors may be able to sequence individual patient's genomes and provide personalized medicine in which the patient's genetic profile would influence the prevention and treatment of disease.

More information

The U.S. National Human Genome Research Institute has more about mapping the human genome.

Posted: August 2009


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