On March 27th, 2023, Illumina, a renowned American biotechnology company specializing in DNA sequencing and array-based technologies, launched Connected Insights, a cloud-based software designed to facilitate tertiary analysis for clinical next-generation sequencing (NGS) data.
Read the complete story to explore the features and benefits of Connected Insights and how it addresses the growing demand for precision care in the field of clinical genomics.
Streamlining Data Interpretation and Reporting
Connected Insights, an expansion of Illumina's Connected Software portfolio, offers a streamlined approach to data interpretation and reporting from various assay types. This software enables laboratories to scale the use of NGS and reduce turnaround time for clinical reporting by integrating third-party knowledge bases.
Initially, the focus is on supporting somatic oncology applications, aligning with the increasing utilization of comprehensive genomic profiling (CGP) for advanced tumors. Furthermore, Connected Insights aims to support a wide range of applications, including whole-genome sequencing (WGS) for rare diseases.
Addressing the Need for Meaningful Data Interpretation
The growing use of NGS in healthcare systems necessitates reliable and clinically applicable interpretation of large genomic datasets.
In a press release, Albrecht Stenzinger, the head of the Center for Molecular Pathology at the University of Heidelberg and an early user of Connected Insights, explains that there has been an increasing emphasis on comprehensive genomic profiling (CGP) for predicting cancer therapy response at the time of diagnosis.
In recent years, there has also been a growing demand for whole-exome sequencing (WES) and whole-genome sequencing (WGS) in the context of rare and pediatric cancers. Furthermore, advancements in early cancer detection and the approval of targeted drugs for early-stage diseases are driving the need for more extensive and thorough testing.
Stenzinger emphasizes the challenge of interpreting the vast amount of data generated through these sequencing techniques. He said, "If you are generating this massive amount of data, you need to interpret this in a meaningful way. 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."
The need for meaningful and clinically relevant interpretation of this massive data has become paramount in the field of genomics. Connected Insights addresses this challenge by providing consistent and reliable data analysis, annotation, and interpretation, ensuring that healthcare professionals can make informed decisions based on genomics data.
Moreover, with the increasing demand for clinical NGS and the adoption of NGS tools such as Connected insights that aim to transform the grudge of data management and storage through meaningful interpretation and analysis capabilities are driving growth in the market.
According to data insights from BIS Research, the global NGS data storage market is projected to reach $6.96 billion by 2033 from $1.13 billion in 2022, growing at a CAGR of 18.02% during the forecast period 2023-2033.
Bridging Data and Clinical Relevance
Connected Insights allows laboratories to connect with over 45 third-party knowledge sources, also involving The Clinical Knowledgebase by The Jackson Laboratory.
These knowledge sources provide digital directories for precision oncology, linking cancer variants with therapies, citing evidence, and aiding the analysis of complex cancer genomic profiles.
Moreover, the software links users to regional guidelines, clinical trial databases, drug labels, and a private collection of data from previous cases within the lab. These resources contribute to the generation of comprehensive clinical reports for healthcare providers, facilitating precision care.
Standardization and Collaboration
One of the challenges in genomic data analysis is the variation in analysis pipelines across different NGS test types, making standardization and data comparison difficult.
Connected Insights tackles this issue by allowing users to manage their data, enabling standardized interpretation and reporting across NGS test types. This approach ensures consistency and facilitates collaboration among researchers and healthcare professionals.
A Fully-Integrated Software Ecosystem
Connected Insights is part of Illumina's fully-integrated software ecosystem that scales with the pace of discovery across NGS applications.
Building on Illumina's sequencing by synthesis (SBS) technology with DRAGEN secondary analysis and Illumina Connected Analytics, Connected Insights empowers users to integrate diverse knowledge bases and data, unlocking clinical relevance.
Eric Duncavage, the head of molecular oncology at Washington University and an early user of Connected Insights, also expressed his previous struggle with the complexity of genome analysis, often having to rely on multiple tools without a centralized solution.
Duncavage 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 is 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."
Conclusion
Traditionally, storing and managing large-scale NGS datasets has posed significant challenges due to the complexity and volume of the data generated.
However, technological advancements such as Connected Insights are shaping the future of NGS data storage and interpretation. These innovations streamline data management, facilitate interpretation through integration with knowledge sources, enable standardized analysis, and foster collaboration, ultimately advancing precision medicine and enhancing patient care.
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