Illumina, Inc. 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 CLIA certified and CAP accredited laboratory utilizing Illumina's Genome Analyzer technology and following the established process shown at http://www.everygenome.com/.
"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."
"Sequencing individuals provides fantastic visibility into our genetic makeup," said Mr. West, who is currently CEO of Novocell, Inc., a stem cell engineering company. "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."
When approached to consider the proposed sequencing of the Wests' underage children, Anne and Paul, the Illumina team assessed the West family's de-identified application to be sequenced and, following the order from their prescribing physician and external medical advice, supported the project. Mr. Flatley said, "While we see substantial potential medical benefit from sequencing, and particularly of families, we feel it is important to be thorough and diligent in pursuing ethically well guided protocols." The Wests have elected to submit only one parental genome data set - and none of the children's data - to the 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 feel they can take action, even as non-scientists, 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.
SOURCE