June 26, 2013

Genome sequencing for $1000 this year and $100 in 2016

The cost of whole genome sequencing that was around $10 million in 2007 will be around $1000 by the end of 2013 and is projected to be under $100 in a three years’ time.

The genetic testing market is estimated to reach $25 billion annually by 2021.

With the Ion Proton System -- a $100,000 machine that can sit on top of a table -- it's not light that's being recorded, but changes in pH balance. The DNA snippets being sequenced are attached to tiny beads sitting in as many as a billion tiny wells on a custom-designed semiconductor chip. The chip is flooded with DNA nucleotides, and when a base snaps into place, a hydrogen ion is released and recorded.




Life Technologies can sequence the exome -- the 1 percent of the genome we know how to interpret -- for $500. "In three months, we'll be able to do one entire human genome for $1,000," predicts Rothberg, whose first company, 454 Life Sciences, was the one that sequenced James Watson's genome.

Eric Topol, a professor of genomics and director of the Scripps Translational Science Institute in San Diego, says chip sequencing -- without expensive reagents -- has the potential to be "remarkably cheaper" than traditional optical sequencing.

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