Illumina launches new software to enable tertiary analysis for oncology applications, and soon rare disease

As demand for clinical next-generation sequencing grows, Illumina Connected Insights enables user to streamline data interpretation and report generation to inform precision care

SAN DIEGO, March 27, 2023 /PRNewswire/ -- Illumina Inc. (NASDAQ: ILMN), a global leader in DNA sequencing and array-based technologies, today announced the release of Connected Insights, a new cloud-based software enabling tertiary analysis for clinical next-generation sequencing (NGS) data.

Expanding on Illumina's Connected Software portfolio, Connected Insights is designed to streamline interpretation and reporting from a range of assay types, enabling labs to scale use of NGS and reduce turnaround time of clinical reporting via integration of third-party knowledge bases. The initial release will support somatic oncology applications, coinciding with the increasing use of comprehensive genomic profiling (CGP) for advanced tumors. Ultimately it is designed to support a diverse range of applications, soon including whole-genome sequencing (WGS) for rare disease. Connected Insights is commercially available in a limited number of countries. The product is undergoing beta testing in the US.

"We're seeing growing demand for NGS testing in health care 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," said Rami Mehio, head of global software and informatics at Illumina. "Connected Insights complements our suite of NGS solutions to generate, analyze, annotate, and interpret data consistently—today and into the future."

Growing use of NGS leads to greater need for data solutions

Albrecht Stenzinger, whose lab was an early-access customer of Connected Insights, says there has been a growing push in recent years for more CGP for cancer therapy response prediction at the time of diagnosis, and for the use of whole-exome sequencing (WES) and WGS for rare and pediatric cancers. Along with that, advances in earlier cancer detection and target drug approvals for early-stage disease will fuel the need for further comprehensive testing.

"If you are generating this massive amount of data, you need to interpret this in a meaningful way," Stenzinger, director of the Center for Molecular Pathology at the University of Heidelberg, said. "It's very hard nowadays to reliably interpret these thousands or even millions of different variants—even in intergenic regions—in a way that is clinically, directly applicable."

Mehio noted that Illumina and its peers across the industry are working to reduce the barriers to access and adoption of NGS testing—including cost, workflow, and reimbursement. He added, "As those barriers diminish, and clinical adoption of NGS matures, the need to bridge great volumes of data with manageable and clinically meaningful reporting becomes more critical for our customers."

Connected Insights enables labs to connect to a network of more than 45 third-party knowledge sources, including The Clinical Knowledgebase by The Jackson Laboratory. These sources provide digital directories for precision oncology, illustrating connections between cancer variants and therapies, citing evidence, and aiding analysis of complex cancer genomic profiles. Connected Insights can also link users to regional guidelines, clinical trial databases, drug labels, and a private, bespoke collection of data from previous cases within the customer's lab—all of which informs the generation of clinical reports for providers.  

A connected software ecosystem

An existing challenge for labs generating genomic data is that analysis pipelines vary across NGS test types, making both standardization and data comparison more difficult. Connected Insights is designed to allow users to manage their data, which can enable standardized interpretation and reporting across NGS test types.

Eric Duncavage, professor of pathology and immunology and head of molecular oncology at Washington University, and an early-access customer of Connected Insights, said: "I used to always tell our trainees, 'There's not a Microsoft Office for genome analysis. You have to run all these different tools, and it's complicated.' I think what Illumina has done [with DRAGEN and its other software] is make genome analysis a step closer to an Office-like suite where it'll do everything."

"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, vice president 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."

Connected Insights is assay-agnostic and compatible with variant calling files (VCF) from any secondary analysis solution, including Illumina's DRAGEN secondary analysis. Connected Insights supports a wide range of DNA and RNA assays with VCF output, including targeted and CGP panels, WES, WGS, and transcriptomic data from both tissue and liquid samples. As the use of clinical NGS testing grows, Illumina will expand the software's capabilities across other disease areas.

About Illumina Connected Software 

Illumina Connected Software is an end-to-end software ecosystem that standardizes analysis tools and connects data across the genomics workflow. Integrating with Illumina sequencers and access to DRAGEN secondary analysis, Illumina Connected Software delivers an efficient, accurate, flexible analysis environment, ready to scale for each customer's workflow.

About Illumina

Illumina is improving human health by unlocking the power of the genome. In 2023 we celebrate 25 years of innovation, which has established us as a global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical, and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture, and other emerging segments. To learn more, visit illumina.com and connect with us on Twitter, Facebook, LinkedIn, Instagram, TikTok, and YouTube.

Use of Forward-Looking Statements

This release contains forward-looking statements that involve risks and uncertainties, including the expectation for lower costs related to the storing and managing of genomic data costs. Among the important factors that could cause actual results to differ materially from those in any forward-looking statements are: (i) challenges inherent in developing and launching new products and services; (ii) our ability to deploy new products, services, and applications, and to expand the markets for our technology platforms; and (iii) the acceptance by customers of our newly launched products, which may or may not meet our and their expectations once deployed, together with other factors detailed in our filings with the Securities and Exchange Commission, including our most recent filings on Forms 10-K and 10-Q, or in information disclosed in public conference calls, the date and time of which are released beforehand. We undertake no obligation, and do not intend, to update these forward-looking statements, to review or confirm analysts' expectations, or to provide interim reports or updates on the progress of the current quarter.

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SOURCE Illumina, Inc.