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DATAMONITOR: Can IT Fuel the Race to the $1,000 Human Genome? The impact of IT on next-generation DNA sequencing
[April 21, 2008]

DATAMONITOR: Can IT Fuel the Race to the $1,000 Human Genome? The impact of IT on next-generation DNA sequencing

(M2 PressWIRE Via Thomson Dialog NewsEdge)

Ever wonder if you have a genetic disposition to a certain disease, or
why a medicine works for your friend, but not for you? The answer might
come sooner than you think. In the past couple of months, several
significant breakthroughs in DNA sequencing technology have been made,
giving hope to the researchers that a $1,000 genome is just around the

Since the completion of the Human Genome Project in 2003, which took
over a decade and cost over $300 million, the idea of personalized
medicine and using genetic testing for medical procedures has become
much more of a reality. Decoding a whole human genome is far too
costly, and so, several companies are in a race to develop the
next-generation DNA sequencer that will drive down the costs of
sequencing a person's genome to $1,000, and to win the $10 million
Archon X Prize - awarded to the company that successfully sequences 100
human genomes in 10 days for $10,000 per genome.

In February 2008, Illumina claimed to sequence a human genome in four
weeks for $100,000, only to be outdone five weeks later by its
competitor, Applied Biosystems (ABI), who announced the sequencing of a
whole human genome for less than $60,000. ABI also mentioned that their
next-generation DNA sequencer is capable of generating up to nine
gigabases per run, which is the highest throughput reported to date.
Also in February 2008, Pacific Biosciences (PacBio) presented a
revolutionary technology that within 5-years could produce a
three-minute raw sequence, and a complete, high-quality sequence in 15
minutes - all for under $1,000. PacBio plans to introduce a sequencing
machine in 2010, but an instrument capable of performing the $1,000
whole genome sequencing will not be available until 2013.

The rapid advancement of next-generation DNA sequencers has been
possible due to vast improvements in computer technology, specifically
in speed and size. But is this enough? These new systems produce
enormous amounts of data - one run could generate close to one terabyte
of data - and bioinformatics and data management tools have to play
catch-up to handle the analysis and storage of this data.

Data management and storage will always be an issue for the life
science and medical research industries, and is something that vendors
will constantly have to improve to appease the research world. Luckily,
there is hope for software vendors. Researchers will only begin to warm
to the idea that next-generation technologies produce better data, and
will provide time- and cost-savings, if there are adequate software
applications to analyze the data.

To support software development, ABI has supplied the bioinformatics
and software vendor communities with sample data sets, data file
formats, and data conversion tools. Other sequencing system providers
should do the same if they want to provide their customers with the
relevant software applications they need for next-generation sequencing
projects. Software vendors should collaborate with the next-generation
DNA sequencer providers, bioinformatics experts, and genomic
researchers to develop research-specific - e.g. whole genome
sequencing, gene expression, microRNA discovery, microbial sequencing,
and genetic variation detection - software applications.

The $1,000 genome has the potential to bring the genomic age to the
physician's office. At this price tag, DNA sequencing may become common
for certain medical procedures - such as testing for cancer and
developing treatments specifically for the patient - and one day,
routine decoding at birth could provide parents with a genetic
instruction guide to their children's future ailments. But this concept
of genome sequencing as a standard medical procedure raises several
privacy issues, as there is nothing more personal than your genetic
code. Who should have access to this information, and how easily
attainable would this data be for others? For example, should only the
patient and physician share this knowledge, or should health insurance
companies be privy to this valuable genome report? Technology vendors
will have to work with the healthcare and medical industries to figure
out the answers to these questions, and then develop the appropriate
security protocols. Healthcare and life science IT vendors should
utilize the expertise of other industries, such as the banking and
credit card industry, that also require high levels of security in
their day-to-day workflow to aid in the development of software to
ensure patient privacy.

Thus far, the race to the $1,000 genome is neck-and-neck. Currently,
the lack of software and sufficient data storage are major obstacles
that next-generation sequence providers are attempting to hurdle.
Technology vendors can help them cross the finish line faster by
providing robust data management and storage systems and working with
the healthcare and life science industries to develop relevant software
applications. The research and medical communities are anxiously
watching this race to the finish. Who will win the coveted $10 million
Archon X Prize? Who will dominate this multi-billion dollar market?
ENDS Notes to Editor: Ruchi Mallyais an analyst on Datamonitor's
Public Sector Technology team, covering the life sciences. Her research
focuses on the usage of technology in the pharmaceutical and
biotechnology markets. Prior to joining Datamonitor, Ruchi was a
research scientist at Roche Pharmaceuticals, where she specialized in
human genetics and pharmacogenomics. She applied pharmaceutical
technologies to explore potential drug targets and the effect of
genetic variation on drug response in patients. Ruchi was also an
engineer at Con Edison, New York City's utility company, where she
created and applied steam distribution models in an effort to increase
system efficiency. In addition, she conducted surveys of large steam
customers aimed at improving recovery from system failures.Ruchi holds
a Master's degree in Biomedical Engineering from Columbia University
and a Bachelor of Engineering degree in Chemical Engineering from The
Cooper Union for the Advancement of Science and Art.

Datamonitor's most recently published Pharmaceutical Technology reports
include: - Addressing Key Challenges in Drug Safety - 2008 Trends to
Watch: Pharmaceutical Technology - Business Trends: Pharmaceutical
Technology - Translational Medicine: Bridging Pharmaceutical Discovery
and Development with IT - Streamlining Information in the
Pharmaceutical Industry with PLM - Bringing Drugs to Market: The Role
of CRM in Improving Sales & Marketing

CONTACT: Krishna Rao, Datamonitor, London
Tel: +44 (0)20 7551 9336
Suzanna Eygabroat, Datamonitor, New York
Tel: +1 585 374 6236 ext 17
Denis Mason, Datamonitor, Sydney
Tel: +61 2 8705 6903

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