UPDATED: Genomics outfit puts genetic tests on computers

A "lab in a box" is heading toward the market with the promise of enabling scientists to put tests for genes associated with certain diseases on computers. Cambridge, MA-based Knome announced the planned release of its combined hardware and software system, a supercomputer called knoSYS 100, which includes the tools to build the computerized genetic tests as well as applications to speed the interpretation of whole genomes, according to the company.

The product marks the latest phase of 5-year-old Knome's maturation in the genomics field, where it started out offering millionaires the chance to have their DNA decoded and then analyzed by experts. Yet the rapid decline in the cost of whole-genome sequencing has prompted the company to focus on the interpretation of genomes rather than sequencing. Even though next-generation sequencers can decode a genome in about a day, researchers are grappling with the weeks or months needed to shed light on what all the DNA data say about human health.

Knome says that the knoSYS, which begins shipping in the fourth quarter, provides researchers with the ability to interpret genomes and identify disease-associated variants and other important insights in about a day. This matches the approximate speed with which Illumina ($ILMN) says it can sequence a genome with its HiSeq technology. With downstream analysis of genomes catching up with sequencing, Knome aims at alleviating the bottleneck in genomic interpretation with knoSYS.

Illumina and other companies have supported the transfer of software for analyzing genomic data to the cloud, where groups with a web connection can slice and dice the information for their research. Yet Martin Tolar, whom Knome named CEO in January, explained that packaging the hardware and software for genomic interpretation with knoSYS enables his company to address the security and privacy concerns of clinical customers, which have been a growing source of revenue for Knome. 

"Our services business for both pharma and academia are in the Amazon ($AMZN) cloud, so this is an environment that we are very familiar with for a long time," Tolar said in an interview with FierceBiotech IT. "What we have heard from the clinics is … that we need to have a solution that is going to be confined within the four walls of the institution."

The system provides tools for developers to create software apps that serve as computerized genetic tests for certain ailments, which could eventually replace some of the tests performed in wet labs. Though, Knome's technology is not approved for making clinical diagnoses, according to Tolar.

"The advent of fast and affordable whole genome interpretation will fundamentally change the genetic testing landscape," said George Church, a professor of genetics at Harvard University and co-founder of Knome, in a statement. "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."

- here's the release
- check out Forbes' take

Special Report: Genomics -- 10 Reasons Why Biotech Needs Big Data

UPDATED: Adds link to Forbes article and the added characterization of the new product as a supercomputer.

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