lundi 25 janvier 2010

Into the Personal Genomics Fray

GenomeWeb, January 25, 2010

Counsyl, a Stanford University start-up, has announced its Universal Genetic Test that allows prospective parents to determine whether their child would be at risk for more than 100 genetic diseases.

The company’s press release says that the test “is free with insurance for more than 100 million Americans” and “is now offered by physicians at more than 100 prestigious medical centers.”

At Genetic Future, Daniel MacArthur, who has used a free kit from Counsyl, says he is intrigued by its approach, especially that it is covered by some insurance companies and that it will likely face question about the ethics of screening for carriers.

Counsyl's offering is intensely focused: the goal is simply to pick up as many known serious disease-associated mutations as possible,” he writes.

jeudi 14 janvier 2010

New Machine From San Diego’s Illumina Intensifies Race for Faster, Cheaper Genome Decoder

Denise Gellene 1/14/10,

The cost of sequencing a person’s genome continues to fall. Illumina this week introduced a machine that can sequence an individual’s genome for under $10,000.

That is one percent of the $1 million it cost to decode a human genome three years ago (2007).

The announcement pushes San Diego-based Illumina to the forefront in an intense race to develop faster and cheaper genome-decoding equipment. The next-cheapest technology costs five times more.

Illumina, which unveiled its HiSeq 2000 at the JP Morgan Healthcare Conference in San Francisco, clearly believes the machine will establish its leadership in the gene-sequencing category.

Other companies are talking about future products, but we’re talking about products that are going to ship next month,” CEO Jay Flatley told Forbes.

Illumina says its first customer is BGI, formerly known as the Bejing Genomics Institute, which has ordered 128 of the new gene-sequencers for its new genome center in Hong Kong.

The HiSeq 2000, which can sequence two genomes simultaneously, is priced at $690,000.

Flatley said during Illumina’s R&D Day presentation today that the purchase will make BGI the world’s largest genome center.

In a statement issued by Illumina, BGI’s president says it is focused on using genetic analysis to enhance agriculture and food production and to develop the personal genomics field in China.

It will be interesting to see how the competition shapes up from here. Complete Genomics of Mountain View, CA, which Luke profiled in 2008, has a stated goal of sequencing individual genomes for $5,000 each. It has a different business model from Illumina.

Rather than selling sequencing machines, Complete Genomics does the genome decoding in-house and sends clients the results. In November 2009, the company published a “proof of principle” in the journal Science that demonstrated it could sequence and analyze a person’s genome for $8,005 to $1,726.

Another competitor is Helicos Biosciences of Cambridge, MA, which announced last year that it had sequenced the genome of one of its founders for $50,000. That is about the same price Illumina set in August 2009 for its sequencing service aimed at consumers.

Cheaper sequencing will enable more researchers to examine genomes from large numbers of individuals for differences linked to health risks or disease.

Some believe that the information will lead to personalized medical care, based on an individual’s genetic information. No one knows how low the cost of genome sequencing can go. But it’s probably fair to say we haven’t seen the bottom.

Denise Gellene is a former Los Angeles Times science writer and regular contributor to Xconomy. You can reach her at

mardi 12 janvier 2010