Is the $1,000 genome for real?

Business Wire

The HiSeq X Ten is composed of ten HiSeq X machines, and sells for at least $10 million.

The US$1,000 genome is here. Or so says sequencing-technology company Illumina, based in San Diego, California. At a healthcare investors' conference on 14 January, Illumina CEO Jay Flatley announced that his company will begin producing a new system this year called the HiSeq X Ten, one that can deliver full coverage human genomes for less than $1,000. Here Nature assesses the claim.

We've heard claims of the $1,000 genome before. Aren't we there already?

Other companies such as Life Technologies, in Carlsbad, California, maker of the Ion Torrent sequencing platforms, and UK-based Oxford Nanopore have said before that they will sell technologies capable of sequencing genomes for $1,000 or less. Neither technology is there yet, and pushing the cost of sequencing under $1,000 has proven to be a tough nut to crack.

Why do we care about a $1,000 genome?

The first sequenced human genome cost nearly $3 billion, but as sequencing costs have dropped substantially, doctors have begun using some patients' genome sequences to improve their care. But scientists think that they will need to sequence hundreds of thousands or even millions of people to truly understand how genes influence disease so that better drugs and treatments can be developed. They say that $1,000 genomes are needed to enable the huge sequencing studies that could lead to breakthroughs in personalized medicine.

What has Illumina said the HiSeq X Ten will do?

The HiSeq X is capable of producing up to 1.8 terabases of data 16 human genomes' worth per three-day run. Illumina says that each HiSeq X Ten will therefore be capable of sequencing 18,000 human genomes per year. Each genome will be sequenced to the gold standard of 30x, which means that each base will be read by the machine an average of thirty times. And these are whole human genomes we're talking about here not solely the protein-coding regions, or exomes.

How big a deal is this?

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Is the $1,000 genome for real?