The tools will integrate the functionality of Illumina's MiSeq® sequencing system and Partners GeneInsight Suite®, an IT platform that streamlines the analysis, interpretation, and reporting of complex genetic test results. The GeneInsight Suite is registered with the FDA as a Class I exempt medical device.
Through the alliance, Illumina and Partners HealthCare are leveraging their respective areas of expertise to jointly enable a comprehensive sequencing and clinically relevant reporting solution for the Illumina family of next-generation based content sets. The new tools will link to Illumina's BaseSpace cloud computing platform and the MyGenome app for iPad®, as well as to a clinical lab's local laboratory information system (LIS). The solution creates a seamless workflow, starting on the MiSeq and delivering results directly into the GeneInsight tool, allowing laboratory personnel to interpret data accurately and with confidence.
"Illumina and Partners HealthCare share a vision of better patient care through genomics," said Matt Posard, Senior Vice President and General Manager of Illumina's Translational and Consumer Genomics business. "This alliance highlights our commitment to a collaborative model that will establish the new standard in NGS clinical-based applications and enable a truly integrated, high-quality solution."
Illumina and Partners HealthCare will initially release the combined MiSeq-GeneInsight solution to a limited number of pilot customers in the clinical testing space. These pilot sites will include a select group of reference laboratories within leading academic institutions, molecular and genetic pathology laboratories looking to bring next-generation-based genetic testing in-house, and commercial reference laboratories. Additionally, Illumina will use the GeneInsight Lab® application in its CLIA-certified sequencing laboratory to support clinical interpretation and reporting.
GeneInsight software has supported the interpretation and reporting workflow for more than 24,000 complex genetic tests across multiple diagnostic reference laboratories, including Partners HealthCare Laboratory for Molecular Medicine, where the software has supported complex genetic tests since 2005.
"We expect the collaboration between our organizations to yield significant benefits to our patients, and to patients worldwide," said Anne Klibanski, M.D., Chief Academic Officer, Partners HealthCare. "We're excited about this extraordinary opportunity to work together to improve patient care and equally pleased that Illumina is committed to developing solutions that continue to advance our understanding of human genetics and disease."
Illumina have also just announced the launch of TruSight™ content sets for targeted sequencing, designed for use in next-generation sequencing. The combination of the content sets and new interpretation and reporting tools is a major step forward in realizing the benefits of next generation sequencing. Illumina remains on track to submit the MiSeq system to the U.S. Food and Drug Administration (FDA) for 510(k) clearance before year end.