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San Diego Company Claims Major Milestone In Gene Sequencing

Above: Older Illumina machines put the price of sequencing a genome around $10,000.

Aired 1/15/14 on KPBS News.

Sequencing an entire genome for $1,000 or less has long been seen as a tipping point in the field of genetics. One San Diego company says they've now succeeded in bringing prices down that low.

Sequencing an entire genome for $1,000 or less has long been seen as a tipping point in the field of genetics. At $1,000 a pop, sequencing would be within reach for many patients. And scientists studying the role of genes in cancer and other diseases could greatly expand their research.

One San Diego company says they've now succeeded in bringing prices down that low.

Illumina CEO Jay Flatley announced the price cut today at the JP Morgan Healthcare Conference in San Francisco. The San Diego-based leader in gene sequencing claims to be the first company to reach this major milestone.

"It has come as a surprise," said Kelly Frazer, director of the Institute of Genomic Medicine at UC San Diego. She says researchers in her field knew the thousand-dollar genome was coming soon—but maybe not this soon.

Describing Illumina's new sequencers as "breakout technology," Frazer said, "It's going to mean a lot for basic researchers doing human disease work. And there's a potential for it to mean a lot for the clinic also."

The system itself is fairly expensive. At $10 million, the machines included in Illumina's HiSeq X Ten package are targeted towards large research institutions for now.

Though it could be awhile before typical patients see the benefits of a $1,000 genome, Frazer said the impact on her own research could be great. Her lab has been studying genetic risk factors for venous thromboembolism (VTE), a disease that causes potentially deadly blood clots.

To stay within budget, Frazer currently relies on incomplete genetic snapshots of her 1,200 subjects. She says a $1,000 genome would allow her to order full sequencing for an even larger cohort, giving her a better idea of who might be at risk for VTE.

Illumina plans to begin shipping their new system in March.

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