Illumina delivers first individual's genome sequence through new
5 September 2009
Illumina, Inc. (NASDAQ:ILMN) has announced that it has delivered
Hermann Hauser’s genome sequence. Dr Hauser, Partner, Amadeus Capital
Partners Ltd, is the first consumer to purchase Illumina’s individual
genome sequencing service working with his physician, Michael Nova, MD,
of Pathway Genomics.
The genome was completed in Illumina’s CLIA-certified and College of
American Pathologists (CAP) accredited laboratory using the Genome
Analyzer technology. Over 110 billion base calls were generated,
delivering over 30X coverage of the genome. Data analysis showed 300K
novel SNPs in the genome that have not been documented elsewhere. This
discovery demonstrates the power of whole genome sequencing as an
exploratory tool, as these SNPs were novel but not necessarily unique.
“We are very excited to be delivering our first individual genome
sequence to Hermann Hauser,” said Jay Flatley, President and CEO of
Illumina. This is a landmark since just two months ago we launched the
availability of this service from Illumina. The experience we created
for Hermann was not only one of personal genetic exploration, but one
that points to a future where genome sequencing will become a routine
practice and the information generated will enable physicians to make
better healthcare decisions for the individual. This information has
long term value for Hermann as he can continue to access it and gain
personal genomic insights as new discoveries are made.
Dr. Hauser’s genome was delivered by a team consisting of his
physician, Dr Michael Nova, a bioinformatics specialist and geneticist
at Illumina’s San Diego headquarters on Thursday, August 20, 2009. The
visit included a consultation, facility tour and ceremony during which
Dr. Hauser’s genome was delivered on an iMac computer using GenomeStudio
software as a genome browsing interface.
Hermann Hauser is one of the first of a small, select group of
individuals who have had their genome sequenced. “Going through
Illumina’s process was very exciting for me personally. I am looking
forward to the information on gene variants that will give my doctors
guidance on effective treatments and drug dosage based on
pharmacogenetic information, for any future medical condition I may
develop," said Hauser.
"This is the beginning of personalized medicine and I am delighted to
be there at the start of it. As an early investor in the gene sequencing
technology used in this work, I am proud that Illumina has introduced
this service to consumers. It fulfills an early dream to substantially
reduce the cost of whole genome sequencing,” he continued.
Dr. Hauser is a pioneer member of a growing community that is driving
education and exchange of information for those who have had their
genomes sequenced. As more information becomes available, participants
will be in a position to mine their personal genome sequence data to
understand their identity in ways which have never been possible before.
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