[ExI] Fwd: [GRG] Knome Announces $24,500 Genome Sequencing

[Bryan Bishop]

---------- Forwarded message ----------
From: James Clement <clementlaw at yahoo.com>
Date: Tue, May 19, 2009 at 1:14 AM
Subject: [GRG] Knome Announces $24,500 Genome Sequencing
To: grg at lists.ucla.edu


For $1 Per Gene, Knome Launches $24,500 Genome Sequencing Service

By Kevin Davies

May 18, 2009 | Personal genomics outfit Knome, which until now has
specialized in offering a whole-genome sequencing service to wealthy
consumers for $99,500 and up, has launched the first $1/gene
comprehensive gene sequencing service.

The exome sequencing service, called KnomeSELECT, will cost $24,500
for individuals, with a $10,000 discount for couples ($19,500 per
person for couples and families). With an estimated 23,000 genes in
the human genome, the service represents a landmark in personal
genomics by reducing the retail cost of gene sequencing and analysis
to less than $1 per gene.

Ari Kiirikki, Knome’s VP sales and business development, told Bio-IT
World: “We’ve done this for several individuals already to test it
out. We’ve fulfilled orders already.”

The KnomeSELECT service will reveal all variants found in the coding
regions of the genome – the exome -- not merely the 500,000-1 million
common SNPs that are currently screened by consumer genomics companies
including 23andMe, deCODEme, Navigenics and Pathway Genomics.

Kiirikki says the stimulus for KnomeSELECT came from three major
directions. “A lot of the interest has been from families. Even at the
$100,000 pricepoint, to include several members of a family becomes
incredibly expensive,” he says. “Couples were coming to us, and trios,
and some cases of twins where one twin had a specific disease running
through their family... It was driven by that desire from families.”

A second factor was the growing interest from medical researchers. “We
had researchers approach us earlier this year from several places
asking us to provide our retail product as a service, and our answer
was, why not?” says Kiirikki. “We’ve partnered with several medical
centers that are using us as a service.” Kiirikki stresses it is a
true partnership. “We do have some proprietary knowledge we’ve
accumulated [over the past 18 months]. We have this variant file –
most of our customer base is healthy individuals.” Knowledge of those
variants can prove informative to researchers screening for
disease-causing mutations.

A third factor of course is the rapidly falling price of technology.
The exome enrichment is being performed, like the sequencing itself,
at the Beijing Genomics Institute (BGI) Shenzen in China. “We’ve been
very satisfied with BGI,” says Kiirikki. “They just bought 12 more
[Illumina GA] machines to keep up with the work – not just the work
we’re sending them.” Kiirikki added: “It’s a huge investment to buy
one of these machines that most likely is going to become obsolete in
another 12-18 months… so it makes sense to use it as a service.”

To a certain extent, Knome is acting as the middleman, but it provides
detailed bioinformatic analysis of the sequence data supplied by BGI.
“If it was a large project -- exomes of 100 people -- it would make
more sense for [clients] to go to BGI directly,” Kiirikki admits. “But
for small groups, twins, families, it’s much more cost effective to
use our platform. We put those research samples in with our regular
retail customers. We’re able to bundle those and get a better price
than researchers could themselves.”

Within Reach

In a statement, Jorge Conde, CEO of Knome, said: “What just several
years ago was available only to the extremely wealthy is now within
the reach of a broader range of individuals seeking to understand more
about the health and well-being of themselves and their loved ones.”

“At this price point, we can now sequence entire families,” said
George Church, co-founder of Knome. Church believes the advent of
affordable whole-genome sequencing will further understanding of
medical genetics, disease gene identification, and shared ancestry.
Family sequencing “enables the detection of new mutations that may not
have been inherited but rather have arisen spontaneously in an
individual.  Further, family-based genomics could benefit young
couples by identifying potential disease genes that might be carried
by healthy individuals but that could be passed down to future
generations.”

Kiirikki says private clients will receive a fairly similar
interpretation for the new exome service as for the whole genome
analysis. “They’re getting 90% of the same interpretation and analysis
from doing KnomeSELECT versus KnomeCOMPLETE,” he says, while
acknowledging that copy number analysis, for example, would be more
comprehensive for the entire sequence.

Last month, Knome concluded its first eBay auction, receiving a single
bid for a complete genome sequence at $68,000. The sole bidder is a
male from Europe, and the proceeds will towards the X PRIZE
Foundation.

Kiirikki did not offer any projections or expectations for the
popularity of the new exome service, but he is cautiously optimistic.
“We got five orders in a week when we reduced the cost from $350,000
to $99,500,” he says. Thus far, Knome has attracted more than 20
customers.

“Look how far we’ve come, it’s amazing,” says Kiirikki. “If we can
move the boulder a little and make some progress, it would be great.”
He noted that it is federal grant writing season, and Knome is seeing
more requests for partnerships.” It’s valuable to have these wealthy
people getting sequenced, but doing this has us all really excited.”

Says Kiirikki: “I promise you, as soon as we can reduce the price,
we’ll reduce it again! We’re not holding it back.”

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