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Ingenuity Partners with LabCorp to Develop New Molecular Dx Informatics Solution

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Setting its sights on the molecular diagnostics market, Ingenuity Systems is working with two collaborators to develop a new informatics solution that will address challenges associated with interpreting and analyzing sequence variants in the clinical setting.

The company is working with its partners to build a cloud-based solution that can interpret and classify large numbers of variants identified by sequencing-based molecular diagnostic tests, Jake Leschly, Ingenuity’s CEO, told BioInform this week. The company plans to launch the new system in 2013.

Its most recent partner is the Laboratory Corporation of America, which has licensed clinical content and applications from Ingenuity that it will use to review and annotate clinically relevant sequence variants.

Leschly explained that Ingenuity and LabCorp will build a solution that provides curated genomic data and “maximally accelerates the speed…and confidence” with which LabCorp can classify variants.

The LabCorp partnership follows a separate collaboration announced last month with Life Technologies to develop a solution that will help physicians interpret information from Life Tech’s molecular diagnostic tests, enabling them to review disease management guidelines, identify clinical trials, and find useful insights from biomedical research.

Leschly said the two collaborations are “development partnerships” that will contribute to the creation of a broadly available informatics platform for sequencing-based molecular diagnostics.

The currently unnamed product will leverage Ingenuity’s curated biomedical content, which includes a database of human disease phenotype-associated variants, and will include capabilities that enable rapid and accurate variant interpretation — one of the major obstacles confronting efforts to bring next-generation sequencing into the molecular diagnostic testing space, according to Leschly.

Informatics tools to handle large numbers of genes and genetic variants in the molecular diagnostic setting is a “huge unmet need” and one that isn’t going away anytime soon, he said.

At present, “it takes about two hours to analyze a variant,” he said. “Today we do a few genes and some very simple phenotypes,” but with next-generation sequencing making inroads into diagnostics, it’s now possible to look at complex phenotypes that involve more than a handful of genes, he said.

As a result, “the entire molecular diagnostic opportunity is gated by the ability to do that biological interpretation classification step,” he said. “You really have to understand how the variant plays in the biological space [and] know what literature exists on [the] particular variant.” Also needed is “an incredibly powerful way to link all the variation in the genome up to diseases and phenotypes [and] make that classification happen,” he explained.

Molecular diagnostics is a new area for Ingenuity, but Leschly believes that his firm’s comprehensive data repository puts it one step ahead of other informatics firms eyeing the Dx market such as GenomeQuest, Knome, NextBio, and Cartagenia.

“You can’t do this without understanding what is in the public literature … without having coherent curation of all the variants in literature, [and] without a comprehensive picture of the biological system,” Leschly said. “We have invested [a lot of money] and 12 years in building out those two things so the bar for competitive entry in … this market, now that we are here, is really, really high.”

Leschly also said that Ingenuity isn’t seeing any “major competition” at the moment. However, with “a market this big and this immediate … a lot of people are going to rush in,” he said. “It will definitely materialize at some point.”

LabCorp declined BioInform’s request for comments on its partnership with Ingenuity.

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