Knome, a Cambridge, Mass.-based provider of human genome interpretation systems and services, has launched its knoSYS100, the first plug-and-play, fully integrated hardware and software system designed to help researchers in medical and academic institutions interpret human whole genomes.

The knoSYS100 was developed to help geneticists discover relevant genetic variation, investigate diseases of unknown cause and create next generation in silico gene tests. Starting at $125,000, the knoSYS100 is based on Knome's big data informatics technology. The system will accept next generation sequence data from leading sequencers, including those sold by Illumina, Life Technologies and Complete Genomics. Units will begin shipping in Q4, 2012.

The difficulty and cost associated with human genome sequencing has largely been addressed, with the cost of sequencing a whole genome expected to decline to under $1,000 in 2013. But it still takes a team of researchers weeks to months to annotate, compare and interpret genome data. This slow pace and the lack of robust tools have significantly limited the ability of researchers to scale the process of interpreting human genomes.

With an average throughput of one genome per day, the knoSYS100 eliminates the current informatics bottleneck in whole genome interpretation—matching the speed of today's fastest sequencers.

"In the first half of this year, we saw the demand for genome interpretation surge as researchers in many of the world's leading medical institutions started preparing for the broad utilization of whole genome interpretation for patient care," said Martin Tolar, CEO of Knome. "All of these institutions face the same issue—how to industrialize genome interpretation so that it is not only accurate, but fast."

More than a dozen of the world's top medical institutions have joined an early access program to pilot Knome's genome interpretation technology, including: ARUP Laboratories, Cedars-Sinai Medical Center, Cincinnati Children's Hospital, The Hospital for Sick Children (SickKids) in Toronto, Hyundai Cancer Institute at CHOC Children's, University of Liverpool and University of Verona.

In addition to providing geneticists with query and visualization applications for conducting in-depth research into sets of whole genomes, the knoSYS100 ships with tools and libraries that allow developers to create in silico gene tests that can be run at the push of a button.

"The advent of fast and affordable whole genome interpretation will fundamentally change the genetic testing landscape," said George Church, PhD, professor of genetics at Harvard University and co-founder of Knome. "The genetic testing lab of the future is a software platform where gene tests are apps. This will shift genetic testing from a fixed, lengthy process to a rapid and highly dynamic one that makes full use of the data contained in the entire genome."

Developers can use the tools and libraries included with the knoSYS100 to replicate existing single gene tests in software. They can also go further, creating next generation superpanels that examine thousands of genes, as well as incorporate artificial intelligence algorithms; deep reference data on protein interaction and expression; statistical functions; and the power of kindred, population and tumor/non-tumor comparison.

"In silico superpanels allow hundreds of conditions to be tested simultaneously and open the door to the development of a new class of molecular diagnostics for complex, multi-gene disorders," said Church. "Moving from a world of assays to apps will expand the definition of what a gene 'test' actually is, raising important questions but also presenting tremendous opportunities to help improve human well-being."

As a demonstration of capability, the knoSYS100 will include several superpanels for research into cancer, epilepsy, heart disorders, and other conditions.

"To further facilitate the application of genomics in patient care, we are investing over $50 million in R&D over the next several years,” said Tolar. “This is where we intend to make a lasting contribution to molecular-based, precision medicine."