vendredi 4 juin 2010

What is the Cost of Human Genome Sequencing?

Two groups tied in first sequencing a human genome, the Human Genome Project, funded by the US Department of Energy, and Celera Genomics, a private company.

The Human Genome Project took 10 years and cost $3 billion USD (US Dollars), while the Celera genome sequencing project took two years and cost just $300 million USD. Both projects concluded in 2000 or 2001, depending on what is considered a "complete" human genome sequencing.

Gene sequencing costs have been dropped exponentially since the sequencing of the human genome in 2000.

In 2007, the genome sequencing of James Watson, a co-discoverer of the structure of DNA, was completed at a cost of $2 million USD.

In 2008, the first full genome sequencing services were sold commercially to customers for a cost of $100,000 USD.

By March 2008, one company, Applied Biosystems, completed a human genome sequencing in two weeks for $60,000 USD, the best cost yet.

Another company, Intelligent Bio-systems, has developed a system that can sequence a full human genome in 24 hours for $5,000 USD.

A price has been offered for the first to sequence 100 human genomes for $10,000 USD each in ten days or less. The $10 million USD prize, donated by diamond prospector Steward Blusson, will continue to be available until the deadline of 4 October 2013.

If the cost of genome sequencing falls below $1,000 USD, or better yet, $500 USD, many futurists have predicted qualitative changes in the way we do medicine.

1000$ genome is coming

In the April 30 online issue of The Lancet, Ashley Caplan, PhD, director of the Center for Bioethics at the University of Pennsylvania and several of his colleagues note that the average person will discover he or she has about 100 genetic risks.

"Even if [counseling on] that information averaged only three minutes per disorder, this process would take more than five hours of direct patient contact, after many hours of background research," they calculate.

And there are only about 2,500 trained genetic counselors and 1,100 clinical geneticists in North America, all now busy with other work.

Personal genome project wants to sequence and compare 100 thousand people. The Genome 10K project aims to assemble a genomic zoo—a collection of DNA sequences representing the genomes of 10,000 vertebrate species, approximately one for every vertebrate genus.

The trajectory of cost reduction in DNA sequencing suggests that this project will be feasible within a few years. Capturing the genetic diversity of vertebrate species would create an unprecedented resource for the life sciences and for worldwide conservation efforts (

30$ genome

According to, a Harvard University physicist is promising an even cheaper price, the ability to sequence a human genome for just $30.

David Weitz and his team are adapting microfluidics technology that uses tiny droplets, a strategy developed in his lab, to DNA sequencing.

While the researchers have not yet sequenced DNA, they have successfully demonstrated parts of the process and formed a startup, GnuBio, to commercialize the technology.

Weitz's team had previously developed a way to create picoliter droplets of water, which act as tiny test tubes. The droplets can be precisely moved around on a microfluidics chip, injected with chemicals and sorted based on color.

Smaller drops means smaller volumes of the chemicals used in the sequencing reaction.

These reagents comprise the major cost of sequencing, and most estimates of the cost to sequence a human genome with a particular technology are calculated using the cost of the chemicals.

Based solely on reagents, Weitz estimates that they will be able to sequence a human genome 30 times for $30.

In Weitz's approach, droplets are injected with short strands of DNA of a known sequence, and these strands are labeled with an optical bar code.

Pieces of the sample with an unknown sequence are also injected into the droplets--if the sample has a stretch of sequence complementary to the known strand, the two pieces will bind, triggering a change in color. Repeat this 1,000 times with 1,000 different known strands and you can generate the sequence of 1,000 letters of DNA, says Weitz.

Both the optical bar code and the color change are detected using a microscope and camera with automated detection software. Weitz says they can produce and process a million drops per second.


- 2000: $3 billion USD (The Human Genome Project)
- 2000: $300 million USD (Celera genome sequencing project)
- 2007: $2 million USD (genome sequencing of James Watson)
-2008: $100,000 USD (first full genome sequencing services sold commercially)
- March 2008: $60,000 USD (Applied Biosystems, two weeks)
- August 2009: $50,000 (Illumina)
- 2009: $50,000 (Helicos Biosciences)
- 2010: $10 000 (Illumina HiSeq 2000)

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