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Illumina announces family DNA sequencing

Illumina has announced that it has sequenced the DNA of the West family, the first publicly named family to have their DNA sequenced to full coverage

Illumina has announced that it has sequenced the DNA of John, Judy, Anne and Paul West, the first publicly named family to have their DNA sequenced to full coverage by the company. The service was completed in Illumina's Clinical Laboratory Improvement Amendments (CLIA) -certified and College of American Pathologists (CAP) - accredited laboratory, utilising Illumina's Genome Analyzer technology.

"We are excited to work with the Wests to produce our first named family DNA sequence," said Jay Flatley, president and CEO of Illumina.

"John West has been a leader in this field for almost 30 years, including his tenure as CEO of Solexa, prior to that company's acquisition by Illumina in 2007. We're delighted to welcome him back as a customer, and appreciate the vote of confidence in selecting Illumina to provide his family's sequencing. This represents an important step forward for genetic research as sequencing moves from single individuals to full families. More comprehensive information about a family's genetic makeup will lead to greater understanding of the human genome and help physicians make better healthcare decisions for their patients in the future." 

West, who is currently CEO of Novocell, a stem cell engineering company, said: "Sequencing individuals provides fantastic visibility into our genetic makeup. By sequencing a family of at least four we can go a step further to interpret compound heterozygote variations in genes – those cases where multiple variations in a single gene, but on opposing chromosome copies, combine as a virtual homozygote.

"I expect that these are much more prevalent, and the source of much more phenotypic variability, than previously understood. Working with medical geneticists, we look forward to exploring this new visibility into factors influencing our future health."

The Wests have elected to submit only one parental genome data set – and none of the children's data – to the National Center for Biotechnology Information (NCBI) database. Their children will have the opportunity to decide if they wish to submit their genome data set to the NCBI once they turn 21.

The Wests feel strongly that it is important to have forward visibility of potential health risks.  If these reveal predisposition to currently incurable diseases, the Wests will be in a position to take action by participating in clinical trials, raising money for research and political activism.

Earlier genetic testing, based on Illumina genotyping arrays, led the Wests to seek non-genetic confirmatory testing, with a successful outcome. Family sequencing is their next step in this proactive approach.

More information about the personal sequencing service is available from Illumina

19th April 2010

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