Illumina 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 utilising the company's Genome Analyzer technology and following an established process.
Jay Flatley, president and chief executive officer of Illumina, said: '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 make-up will lead to a greater understanding of the human genome and help physicians make better healthcare decisions for their patients in the future,' he added.
John West, currently the chief executive officer of Novocell, a stem cell engineering company, said: 'Sequencing individuals provides fantastic visibility into our genetic make-up.
'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,' he added.
When approached to consider the proposed sequencing of the 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.
The family has elected to submit only one parental genome dataset - and none of the children's data - to the NCBI database.
The children will have the opportunity to decide if they wish to submit their genome datasets to the NCBI once they turn 21.
The West family believes that it is important to have the forward visibility of potential health risks.
If these reveal predisposition to currently incurable diseases, they can take action, even as a non-scientists, by participating in clinical trials and raising money for research and political activism.
Earlier genetic testing, based on Illumina genotyping arrays, led the family to seek non-genetic confirmatory testing with a successful outcome.
Family sequencing is the next step in this approach.
