Sequencing

Roche Diagnostics is built on a proud history of innovation and scientific expertise across molecular, pathology, core lab, and near patient care. Our sequencing solutions complement this portfolio, offering outstanding and reliable performance and streamlined workflow.

Our sequencing products, like the KAPA portfolio of library prep and target enrichment solutions, the AVENIO Edge System,* and navify Mutation Profiler** offer the flexibility needed for NGS workflows, whereas end-to-end AVENIO Tumor Tissue CGP and oncology assays are carefully optimized for easy implementation in labs with limited NGS experience.

The transformative AXELIOS 1 platform^† is designed to provide accuracy and speed required for rapid-turnaround and deep coverage that can support research applications, yet offers the flexibility and cost-effectiveness  to support data-intensive emerging research applications such as single-cell genomics and spatial transcriptomics.

Our product design is informed by extensive product development experience, scientific collaborations, and a deep understanding of laboratory operations. Insights gained from serving a diverse, global customer base ensure that products are engineered to meet specific needs across a broad range of sample types, applications, and laboratory settings. State-of-the-art manufacturing facilities on multiple continents release products to rigorous quality standards, ensuring a robust and reliable supply chain.

At Roche, we combine decades of expertise in diagnostics and drug development to relentlessly advance science and address the most complex challenges in healthcare. We recognise NGS as a crucial technology that has the potential to augment our diagnostic portfolio, enabling us to continue our mission of improving lives through innovative solutions.

A commitment to transform the sequencing landscape is further realized through the addition of SBX technology to our portfolio. With high accuracy, speed, scalability, and flexibility, SBX promises to revolutionize the research application of NGS in oncology, genetics, complex and infectious diseases. Over time, we will integrate SBX with our existing tools and cutting-edge chemistries. Our goal is to offer the full breadth and depth of Roche’s technical expertise, consistent product quality, reliability, and customer-centric support, across the entire sequencing workflow, from sample to report.

We are committed to innovations in NGS, leveraging the portfolio to bring end-to-end solutions that can accelerate applications in research, diagnostics, drug discovery and development, companion diagnostics, and other areas in the future. Our goal is to further develop personalized healthcare—both within Roche and also via partnerships with leading sequencing labs and pharmaceutical companies globally.

Our NGS product portfolio offers flexible product configurations and workflow parameters to support the scale of your project, the intricacies of your experimental design, and operational requirements or constraints.

• KAPA library prep and target enrichment reagents are available in a variety of product configurations and pack sizes to support manual and automated sample prep, minimize plastic waste, and reduce per-sample cost. Customized content, packaging, and documentation are available to support your project goals and business operations.
• The AVENIO Edge System* and third-party automated sample prep solutions offer tunable parameters to support different batch sizes, fragment lengths, and other workflow parameters.
• AVENIO oncology assays offer a versatile framework for both tumor tissue and ctDNA analysis, supporting research applications from board genomic profiling to targeted profiling with various panel sizes.
• The AXELIOS 1 platform^† aims to offer unique operational flexibility, selectable read-lengths, and accelerated sequencing run times that scale proportionately with output.

While the power of NGS excels at interrogating complex biological questions, this often comes with a trade-off in turnaround time compared to non-NGS assays. At Roche, we continuously strive to reduce the time from sample to result by streamlining our technology, workflows, chemistries, and analysis algorithms.

• KAPA and AVENIO workflows, manual or automated, are continually refined to minimize reagent additions, manipulations, and incubation times, ensuring that user intervention is reduced without compromising performance.
• Workflows are designed and optimized for standard workdays, and contain quality control (QC) and safe stopping points to support high success rates and optimal utilization of lab resources.
• SBX technology is capable of enabling high efficiency with multiple sequencing methods and selectable read lengths on a single platform, reusable sensor modules, and accelerated run times. In a proof of concept experiment, SBX-Fast workflow allows for completion of a DNA sequencing run from sample to VCF in ~5 hours.¹
• Secondary and tertiary analysis tools are cloud-based and intuitive to use.

Roche quality standards encompass a commitment to ethical conduct, patient safety, environmental protection, and high performance across its global operations. 

• We manage quality through a robust global quality management system (QMS) that ensures compliance with strict internal policies and standards, as well as external guidelines and regulations.
• We are committed to continuous improvement and a culture of compliance to ensure supply chain integrity and sustainability.
• Quality processes and metrics are developed and validated during product development. Every instrument and batch of reagents undergo rigorous quality control (QC) testing to ensure reliable performance and lot-to-lot consistency.