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Mar 19, 2013

Clinical NGS Takes Step Forward

  • Ingenuity Systems and GeneInsight report that they will work together on an integrated workflow solution, encompassing the annotation, analysis, assessment, and reporting of human variants from sequencing-based tests. The ability to provide the clinical laboratory market with a seamlessly integrated workflow to support next-generation sequencing-based tests takes will be greatly enhanced by this collaboration, according to Doug Bassett, chief scientific officer and chief technology officer at Ingenuity.

    The current bottleneck for clinical laboratories offering NGS-based tests is the interpretation and clinical assessment of the genetic variants found in each patient. With annotation and filtration tools, the interpretative process reportedly becomes more scalable for gene panel, exome, and whole-genome data sets. Through the combined offering, Ingenuity will provide content and software for the analysis and biological interpretation of variants from sequencing-based test. Ingenuity’s technology also will be interfaced with the GeneInsight Suite. GeneInsight, which is a wholly owned subsidiary of Partners HealthCare, will provide genetic testing laboratories and providers with a networked infrastructure to support interpretation, reporting, and management of genetic data, noted Heidi Rehm, Ph.D., chief laboratory director, Partners’ Laboratory for Molecular Medicine.

    “This truly integrated solution will go a long way towards making NGS-based technology more accessible in the clinic,” continued Dr. Rehm.

    “Clinical assessment of variants is all about the content [and] quickly and accurately evaluating relevant literature, databases, and prior clinical observations to identify clinically relevant and actionable variants,” added Bassett. “The synergy of Ingenuity’s extensive Knowledge Base of expert-curated clinical literature content with GeneInsight’s knowledge management infrastructure and clinical reporting capabilities is a powerful combination for reference labs looking to streamline and scale variant assessment for sequence-based tests.”


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