Category Archives: Transhuman News

14 1 Human Genome
Video Notes for Section 14.1.

By: Jan Esmay

Original post:
14 1 Human Genome - Video

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?

Jan. 15 (UPI) -- San Diego-based genetic technology company Illumina has announced a machine that can sequence a human genome for $1,000.

The new product, called HiSeq X Ten Sequencing System, was launched at the annual JP Morgan Healthcare Conference in San Francisco. The $1 million sequencer comes in a set of 10 units and can generate 1.8 Tb of sequencing data in 3 days and up to 600 Gb in a single day at no more than $1,000 per genome.

"Breaking the sound barrier of human genetics not only pushes us through a psychological milestone, it enables projects of unprecedented scale," said Illumina CEO Jay Flatley.

This cost includes typical instrument depreciation, DNA extraction, library preparation, and estimated labor. A number of companies have placed orders for the product, including the Broad Institute, an independent biomedical research center affiliated with MIT and Harvard.

"Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine, said Broad Institute founding Director Eric Lander.

The term "$1,000 genome" comes from the Archon X-prize that challenged teams to build machines that could sequence 100 genomes in 30 days or less, with minimal errors and at a cost of $1,000 per genome.

[Illumina]

More:
Illumina promises sequencing for $1000 per genome

BusinessWire

Yesterday, the company that leads the field in DNA sequencing machines announced that it was preparing to sell systems that would finally put a major milestone in reach: the $1,000 genome. This is a notable breakthrough as it's been less than a decade since a genome cost over a quarter-million dollars. While the price may be revolutionary, the system itself is an evolution of existing technology, built up to provide massive economies of scale.

The foundation of the new system is a sequencing machine that improves a bit on the company's existing hardware, providing more individual sequencing reactions at the same time in each machine (6-8 billion reactions in each machine) and speeding up the actual reactions so that more gets done within a 24-hour period. The system itself then clusters 10 of these sped-up machines. The cluster of 10, according to Matthew Herper at Forbes, will set you back $10 million.

Despite the high cost of entry, however, Illumina claims that the amortized price is included in their $1,000 figureas are the costs of preparing the DNA and consumables used during the reactions, even the labor needed to get it all to happen. In other words, a single genome will still cost a fortune; buying the system and cranking out genomes nonstop for a few years will mean that the average cost drops to near the $1,000 price tag.

The cluster itself will be impressive. Each machine will churn out 600 Gigabases each day. Each copy of the human genome is only about three billion base pairs, and sequencing each of those bases an average of 30 times is typical for a lot of genome work, which means that a single genome will only take up 15 percent of a single machine's daily capacity. Spread out over a year, Illumina estimates that the cluster can output about 18,000 genomes every year. Your mileage may vary.

A number of large genome sequencing centers have already signed up for delivery of these systems, so they'll have an almost immediate impact in the academic world. But the $1,000 genome is mostly a figure that will be appealing for consumers. Unfortunately, the enormous up-front costs of the system make it unlikely that anyone's going to be rushing out to buy one of these so that they can turn around and offer its benefits to consumers, given that the consumer market is essentially nonexistent right now.

For more details, you can read Illumina's description of the system.

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The $1,000 genome could be yours—if you spend $10 million on equipment

January 15, 2014

Brett Smith for redOrbit.com Your Universe Online

A thousand bucks can get you that new MacBook Air or serve as a sizeable down payment on a new car. But a longer-term investment might be to sequence your entire personal genome.

On Tuesday, Ilumina, the worlds leading seller of gene sequencing machines, unveiled HiSeq X Ten the first supercomputer made to process 20,000 human genomes annually at a cost of $1,000 each.

At a conference in San Francisco, Illuminas CEO Jay Flatleysaid customers will start to see the DNA-sequencing machine on the market in the first quarter of 2014.

This will be a blockbuster product, he told Bloomberg News.

The $1,000-mark is a major milestone for the genetic sequencing industry, which has been trying to hit that goal for years. Experts have predicted that this price point would allow for the mainstreaming of genetic sequencing and a resulting multiplication of genetic data that could lead to an explosion in medical breakthroughs.

To figure out cancer, we need to sequence hundreds of thousands of cancer genomes, and this is the way to do it, Flatley explained.

John Mattick, executive director of the Garvan Institute of Medical Research in Australia, said in an Illumina press release that his institution would seek to leverage this new technology in pursuit of its research goals.

The sequencing capacity and economies of scale of the HiSeq X Ten facility will also allow Garvan to accelerate the introduction of clinical genomics and next-generation medicine in Australia, Mattick said. We expect the HiSeq X Ten to underpin a new phase of collaboration between government, industry and other medical research stakeholders.

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Sequence Your Genome For $1,000?