January 18, 2014
$1000 Genome Sequencing Arrives From Illumina

A very large number of very useful genetic discoveries are awaiting sequencing technology cheap enough to enable a huge increase in the amount of DNA sequencing that scientists can do. Well, the $1000 genome has finally arrived.

SAN DIEGO--(BUSINESS WIRE)--Jan. 14, 2014-- Illumina, Inc. (NASDAQ:ILMN) today broke the ‘sound barrier’ of human genomics by enabling the $1,000 genome. This achievement is made possible by the new HiSeq X Ten Sequencing System. This platform includes dramatic technology breakthroughs that enable researchers to undertake studies of unprecedented scale by providing the throughput to sequence tens of thousands of human whole genomes in a single year in a single lab. Initial customers for the transformative HiSeq X Ten System include Macrogen, a global next-generation sequencing service organization based in Seoul, South Korea and its CLIA laboratory in Rockville, Maryland, the Broad Institute in Cambridge, Massachusetts, the world’s leading research institute in genomic medicine, and the Garvan Institute of Medical Research in Sydney, Australia, a world leader in biomedical research.

Sign me up. I want to get my full genome sequenced.

I like the sound of this: "we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine."

“For the first time, it looks like it will be possible to deliver the $1,000 genome, which is tremendously exciting,” said Eric Lander, founding director of the Broad Institute and a professor of biology at MIT. “The HiSeq X Ten should give us the ability to analyze complete genomic information from huge sample populations. 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.”

What I'm hoping for: these genetic engineering machines will get installed in some countries without of the US FDA attitude about direct-to-consumer genetic testing. Preferred: a country that has good vacation spots. Go on vacation, come back with a full genome sequence.

The US FDA has shut down 23andme's ability to sell services that give you digested genetic variant interpretation, at least in the US. If 23andme or another company could sell you genetic interpretation services while are in, say Bermuda or Mexico or Australia (or Taiwan, Hong Kong, Singapore, or Ukraine) we could go on vacation trips and find out useful information about our genomes.

If any readers ever come across genetic full genome testing services outside of the United States for affordable countries please let us all know. I'd like to be able to pay while abroad to get a stream of years of genetic interpretation updates by email.

We will know about impacts of hundreds and possibly thousands of more genetic variants in the next few years.

Another big benefit: identification of many mutations that help cancers grow. Anyone getting diagnosed with cancer will likely get tested for dozens or hundreds of mutations to see which ones are in that cancer. Since cancers are genetically very heterogeneous (different cancer cells have different mutations) many different cells extracted from different parts of a tumor will get tested. This will allow targeting of treatments at the specific mutations one has.

Starting in late 2007 the cost of genome sequencing started falling much more rapidly than the previous historical trend. Check out this trend line:

cost_per_genome_apr.jpg
Share |      Randall Parker, 2014 January 18 08:37 PM 


Comments
coolball said at January 19, 2014 1:27 PM:

This is excellent. Hopefully better comparisons with centenarian genetic profiles can be made. If we can figure out from the genetic side how you can be a heavy smoker with a bad diet and be disease free for a century, we will be in excellent condition to create a pill that alters gene expression to such a degree.

Nick G said at January 19, 2014 3:05 PM:

Why does sequencing with this machine cost as much as $1,000?? They say each machine costs $1M, and can do 20,000 genomes per year. Well, if the machines last only 3 years, that's $1M divided by 60,000 which is equal to $17 per sequence!!

Do labor and supplies per genome sequencing really cost $980???

Randall Parker said at January 19, 2014 4:19 PM:

coolball,

Next I want genetic editing technology. First, we sequence large numbers of people. Then we find out which genetic variants are pure harmful (genetic load). Then we get a cell taken from our body, grown up into many cells, send in the genetic editors. Fix all the genetic load variants. Then make youthful stem cells. Then put them in various parts of your body. As time goes on they will gradually replace old cells with new cells that are much higher functioning. Become better than you ever were.

Mike said at January 20, 2014 9:56 AM:

Does anyone know what sort of tissue samples then can use for sequencing. My father has recently been diagnosed with terminal cancer. It is very unlikely that any commercial service will be offering sequencing at this sort of price in time for him. However I think I would still like to get his DNA sequenced at some point. Would they be able to use something like a sample of hair?

commander wiggles said at January 23, 2014 3:14 PM:

@Do labor and supplies per genome sequencing really cost $980???

doctor's monopoly vig.

Mark Bahner said at January 27, 2014 9:07 PM:

Mike,

I'm so sorry to read about your father. Here's one DNA banking site. There are probably others:

http://www.dnacenter.com/dna-testing/banking-faqs.html

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