Illumina Releases Cloud-Based Software for Next-Gen Sequencing

Illumina has released its new Connected Insights, cloud-based software that provides tertiary analysis for clinical next-generation sequencing (NGS) data.
 
Connected Insights was designed to streamline interpretation and reporting from a range of assay types so labs can scale use of NGS and reduce clinical reporting turnaround time via integrating third-party knowledge bases.
 
Initial release will support somatic oncology applications, based on increasing use of comprehensive genomic profiling (CGP) for advanced tumors. Illumina stated the software is designed to support a range of applications, soon including whole-genome sequencing (WGS) for rare disease.
 
Connected Insights is commercially available in a limited number of countries and is undergoing beta testing in the U.S.
 
“We’re seeing growing demand for NGS testing in healthcare systems, and with that comes the need for interpretation of large genomic data sets with complex health implications in a landscape of frequently changing guidelines and drug approvals,” Rami Mehio, head of global software and informatics at Illumina, told the press. “Connected Insights complements our suite of NGS solutions to generate, analyze, annotate, and interpret data consistently—today and into the future.”
 
Using Connected Insights, labs can connect to a network of over 45 third-party knowledge sources, including The Clinical Knowledgebase by The Jackson Laboratory. The sources offer digital directories for precision oncology, illustrating connections between cancer variants and therapies, citing evidence, and assisting analysis of complex cancer genomic profiles. Users can also be linked to regional guidelines, clinical trial databases, drug labels, and a private, bespoke collection of data from previous cases in the customer’s lab.
 
“Connected Insights is the next step in creating a fully-integrated software ecosystem that scales with the pace of discovery, across NGS applications,” said Jing Gao, VP of software engineering at Illumina. “Building on our platforms of proven SBS technology with DRAGEN secondary analysis, Illumina Connected Analytics—and now Connected Insights—enables our users to bring a variety of knowledgebases and data together to discover clinical relevance. The ability to share and compare omic data within Illumina Connected Software facilitates collaboration that will advance medical science and patient care.”
 
The cloud-based software is assay-agnostic and compatible with variant calling files (VCF) from any secondary analysis solution, according to Illumina. Connected Insights supports a range of DNA and RNA assays with VCF output, including targeted and CGP panels, WES, WGS, and transcriptomic data from tissue and liquid samples.
 
As use of clinical NGS testing becomes more widely used, Illumina aims to expand the software’s capabilities across other disease areas.