Illumina San DiegoIllumina are enjoying a boost in share price this week following the announcement, at this year’s J.P Morgan Healthcare Conference in San Francisco, of a new product line that could shrink the cost of sequencing a genome to as little as $100, and the time involved to just one hour. The first human genome took 13 years and $3 billion to complete.

“The introduction of NovaSeq marks one of the most important inflection points of innovation in Illumina’s history,” said Francis deSouza, President and CEO of Illumina. “We believe that future systems derived from the NovaSeq architecture we are launching today one day will enable the $100 genome and propel discoveries that will enable a deeper understanding and better treatments for complex disease.”

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In spite of big promises, NovaSeq does come with a few caveats, the big one being that the $100 genome is some way off. According to deSouza: “We believe that future systems derived from the NovaSeq architecture we are launching today one day will enable the $100 genome.” And even if the machine itself can spit out a sequence in an hour, the interpretation and mapping is likely to take far long than that. 

The “$1000 genome” has been shorthand for the affordable threshold for DNA sequencing since the phrase was first coined in 2001. Three years ago Illumina claimed the headlines at JP Morgan by announcing that the HiSeq X Ten machine could generate a genome for $1000. However the initial cost of the kit to customers was an eye-watering $10 million.

NovaSeq is a far more wallet-friendly system than HiSeq X Ten, but still on the costly side with prices ranging from $850,000 to $985,000. However, in contrast to Illumina’s current top-line sequencers, the new machines are sold separately, rather than in bundles. 

Among the early adopters of NovaSeq are the Broad Institute of MIT and Harvard, the Chan Zuckerberg Biohub, and biotech companies Regeneron and Craig Venter’s Human Longevity Inc, which will be using the new technology alongside an existing battery of HiSeq X Ten machines.

“Faster, inexpensive and innovative sequencing technology is a key component driving breakthroughs in precision medicine,” said Venter in a statement. “This technology is also enabling HLI to expand the HLI database, the world’s most comprehensive database of genomic, phenotypic, and clinical data.”

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