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Celera's
"Whole-Genome Shotgun Sequencing" method
On
January 10th, 2000, Celera Genomics Group held a press conference
announcing that it has succeeded in sequencing 90% of the human
genome. Currently the Human Genome Project's web-site states that
its version of the sequence is currently 47% complete. One might
ask the question: how is it possible that a private corporation
that has only existed since September of 1998, has succeeded in
leapfrogging a multi-national public effort which has been working
on the human genome for nearly a decade?
The
answer is simply that Celera (a division of Perkins-Elmer, a manufacturer
of scientific instruments) uses a completely different technique
than the Human Genome Project (HGP). Their technique, called the
whole-genome shotgun sequencing method, is able to process large
amounts of data more quickly than the HGP. Their work is speeded
up by an enormous array of super computers that deal with the entirety
of the genetic sequence simultaneously, rather than working systematically
end to end. "Shotgun sequencing," was developed by Dr. Craig Venter,
co-founder and president of Celera Genomics, and Dr. Ham Smith,
a Nobel Laureate, in 1994.
The
technique consists of splitting human chromosomes randomly into
millions pieces 2,000 and 10,000 base pairs long. These pieces are
then propagated in E. coli cells to produce copies of each fragment.
These are then sequenced and assembled using proprietary genome
assembly algorithms. It was first utilized at The Institute for
Genomic Research (TIGR), an independent, non-profit research institute
founded by Venter. With government funding, they were able to use
the technique to sequence many complete genomic sequences at TIGR,
including those of Hemophilus influenza and malaria.
While
much faster than the technique employed by the HGP, the data yielded
is thinner and contains less information about the function of each
sequenced gene. The possible benefit is that pharmaceutical companies
will be able to use the information immediately to develop improved
medicines and therapies for diseases. However, in the words of Dr.
Maynard Olson before Congress in 1998, "I, frankly, am a skeptic
that the approaches as publicly described will lead to a product
of sufficient quality to meet the long term needs of the scientific
community." Right now, in early 2000, it is difficult to tell since
the human genome data has not been released. The potential difference
in the data embodies the different long-term goals of Celera Genomics
and the Human Genome Project.
Whereas
the goal of the Human Genome Project is simply to develop a complete
and highly accurate human genomic sequence that will be available
to the public, Celera is a private, for-profit entity with a different
set of concerns. Their primary responsibility is to their investors;
therefore their technique is wed to a well-developed business plan.
Part of this plan is to hold portions of their data in reserve so
that specific genes may be patented. The patented sequences will
then be licensed to drug-discovery companies, which will be able
to use the information to their advantage. Some observers, including
Jeremy Rifkin, President of the Foundation on Economic trends, have
noted that such an arrangement may lead to an enormous increase
in the cost of medication. Also at issue is the question of whether
or not U.S. Patent laws, designed to protect inventions, extend
to scientific discoveries. These are important questions that will
need to be answered soon in order to form the basis of future private/public
collaborative efforts.
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