The race to a $100 genome

Technologies like Illumina's sequencing machine are radically cutting the cost of mapping out the human genome.

(CNNMoney)

Afternoon jitters, though, were not the reason Costa, a primary care physician, decided to have his DNA sequenced last year. He wanted to find out if he was predisposed to certain illnesses and see if the test he took -- priced at just $99 -- might be useful for his patients.

Costa, who owns Enhanced Medical Care in Newton, Mass., had his DNA sequenced by 23andMe. The Mountain View, Calif., startup has been a pioneer in low-cost genetic testing aimed at consumers, with a test that currently analyzes around 1 million locations on each client's genome and generates a report on 248 health conditions and traits.

Entrepreneurs and scientists are pursuing an even more dramatic medical breakthrough: The ability to sequence an entire human genome for around that same $100 price tag. That goal remains a few years away, but the obstacles are falling fast.

Sequencing is a way of "reading" DNA molecules -- two strands twisted together to form that famous double helix. The entire human genome contains roughly 3 billion molecular base pairs, which researchers study to find variations that might play a role in the development of diseases. Right now it typically costs $1,000 to $4,000 to map out an individual's genome. (Specialized sequencing -- for, say, a cancer patient -- often costs more.)

That's not cheap, but it's an enormous plunge from where the price tag stood just a few years ago. When one of the first individual genomes was sequenced in 2007 -- that of James Watson, co-discoverer of DNA's double-helix shape -- it cost around $1 million.

"The cost-per-bit of biologic information is coming down faster than Moore's Law," says G. Steven Burrill, the founder of Burrill & Company, a San Francisco financial services firm focused on the life sciences industry. A data set compiled by the National Institutes of Health's genome research lab bears out that comparison: Since 2007, the cost of genome sequencing has been in free-fall, dropping by as much as 90% several years in a row.

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Dozens of startups are trying to carve off their chunk of a genetic testing market that UnitedHealthcare estimates could reach $25 billion annually by 2021.

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The race to a $100 genome