PacBio Announces PureTarget™ Repeat Expansion Panel, Expanding its Portfolio of End-to-End Clinical Research Solutions

Rhea-AI Summary

PacBio introduces the PureTarget repeat expansion panel for comprehensive analysis of 20 genes linked to neurological diseases. The new long-read sequencing workflow aims to identify disease-causing variants and methylation signatures efficiently, offering a commercial opportunity in large laboratories.

Genomics Research Analyst

The introduction of PacBio's PureTarget repeat expansion panel represents a significant advancement in the field of genomics, particularly for the analysis of neurological diseases. The ability to target 20 genes associated with various neurological disorders, including those with challenging tandem repeat expansions, is a notable leap forward. This technology bypasses the limitations of short-read sequencing, which often struggles with repeat-rich regions of the genome and offers a more comprehensive understanding of genetic variations and epigenetic modifications such as methylation signatures.

From a research perspective, the implications of such a tool are vast. It allows for a deeper exploration of genetic underpinnings in diseases like Huntington's and ALS. The high read depth and lower DNA input requirements mentioned by Associate Professor Alice Davidson underline the potential for uncovering new insights into repeat mosaicism and instability, which could lead to breakthroughs in understanding disease progression and potentially, therapeutic targets.

For stakeholders, this innovation may translate into a competitive edge for PacBio in the genomics market, potentially capturing a larger share of the sequencing market, especially within large research laboratories that handle high sample volumes. The ability to multiplex a significant number of samples on PacBio's sequencing systems also underscores the efficiency and scalability of the new panel.

Healthcare Investment Analyst

The announcement of the PureTarget repeat expansion panel by PacBio is likely to be received positively by the investment community, given the company's focus on addressing a critical need within the genomics market. The specificity of the PureTarget panel to neurological diseases taps into a niche yet significant segment that has been historically underserved by existing sequencing technologies. The mention of a simplified workflow and fast turnaround time suggests the potential for increased laboratory throughput and reduced operational costs, which could lead to margin improvements and enhanced profitability.

Investors will be particularly attuned to the commercial opportunities presented by the tens of thousands of samples that could be processed by the world's largest laboratories. This volume indicates a substantial market demand and suggests that PacBio could see an uptick in sales and market penetration. Furthermore, the integration with PacBio's other products, like the Nanobind PanDNA kit and the Tandem Repeat Genotyping Tools, demonstrates a strategic move to offer end-to-end solutions, which could drive customer loyalty and increase the lifetime value of each customer.

However, it is crucial to monitor the adoption rate of the new panel post-launch and any potential technical or market barriers that could affect its uptake. Competitive responses from other players in the sequencing market could also influence PacBio's market position and should be considered in the analysis.

Biotechnology Market Analyst

The launch of the PureTarget repeat expansion panel by PacBio is poised to impact the biotechnology sector, particularly in the niche of neurological disease research. The panel's ability to retain methylation signatures without additional assays is a unique selling proposition that streamlines the research process and potentially reduces costs for end-users. By offering a comprehensive analysis of genes with tandem repeat expansions, PacBio is addressing a complex challenge in genomics, which could lead to a greater understanding of neurological conditions and aid in the development of new diagnostics and treatments.

Market trends indicate a growing demand for precision medicine and personalized healthcare solutions and PacBio's PureTarget panel aligns well with these trends by providing detailed genetic and epigenetic information. The integration of this panel with PacBio's existing sequencing systems, Revio and Sequel IIe, suggests a strategic initiative to enhance the utility and attractiveness of their complete product line.

The biotechnology sector is highly competitive and the success of new products like this panel hinges on factors such as ease of use, reliability and cost-effectiveness. If the PureTarget panel delivers on these fronts, it could secure a significant position in the market and drive further innovation in the field.

HiFi Long-Read Sequencing Panel Supports Comprehensive Analysis of 20 Genes Associated With Neurological Disease

MENLO PARK, Calif., March 12, 2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the PureTarget repeat expansion panel, a new solution designed to enable the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions. The new long-read workflow can minimize iterative analysis using legacy technology, and reduce the time needed to identify disease-causing variants and associated methylation signatures.

"HiFi sequencing is uniquely capable of comprehensively characterizing the germline and somatic variation of tandem repeats¹ which cause dozens of neurological diseases.² Our new PureTarget repeat expansion panel is designed to target these repeat expansions to help our customers understand the underpinnings of tandem repeats," said Christian Henry, President and Chief Executive Officer of PacBio. "This product uses a differentiated method to do targeted long-read sequencing of DNA in its pure state. PureTarget libraries retain methylation signatures, which saves our customers from having to run a separate assay while providing a complete picture for disease genes like FMR1. With a simplified workflow and fast turnaround time, we believe this panel could bring PacBio an increased commercial opportunity in the form of tens of thousands of samples in the world's largest laboratories."

Targeted sequencing is an ideal method for researchers and commercial laboratories looking to cost-effectively study and analyze the role of specific genes and gene variants. The 20 genes that comprise the PureTarget repeat expansion panel are implicated in a wide range of debilitating neurological diseases that afflict children and adults including ataxia, Huntington's disease, myotonic dystrophy, amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and Fragile-X disease.

"This new kit has opened up really exciting opportunities for our research program focused on repeat expansions and inherited eye disease," said Alice Davidson, Associate Professor at University College London. "The relatively lower DNA input requirements, coupled with high read depth output, has allowed us to uncover levels of repeat mosaicism and instability at our repeat locus of interest with affected cell populations."

Continuing the commitment to deliver comprehensive solutions, PacBio has prioritized delivering end-to-end workflows with their latest products. The PureTarget Repeat Expansion Panel workflow utilizes the recently announced Nanobind PanDNA kit, ensuring robust results optimized for Revio and Sequel IIe users. Customers can multiplex up to 48 samples on the PacBio Revio sequencing system and 24 samples on the PacBio Sequel IIe sequencing system. Additionally, PacBio provides intuitive data analysis for genotyping through a new workflow driven by Tandem Repeat Genotyping Tools (TRGT), as recently featured in Nature Biotechnology.

The new PureTarget panel is expected to be available for shipment starting March 25, 2024. More information about PacBio application kits is available here.

About PacBio
PacBio (NASDAQ: PACB) is a premier life science technology company that is designing, developing and manufacturing advanced sequencing solutions to help scientists and clinical researchers resolve genetically complex problems. Our products and technologies stem from two highly differentiated core technologies focused on accuracy, quality and completeness which include our HiFi long-read sequencing and our SBB® short-read sequencing technologies. Our products address solutions across a broad set of research applications including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

PacBio products are provided for Research Use Only. Not for use in diagnostic procedures.

Forward-Looking Statements
This press release contains "forward-looking statements" within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the U.S. Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements relating to the availability or expected availability, uses, coverage, advantages, quality or performance of, or benefits or expected benefits of using, PacBio products or technologies, including the PureTarget Repeat Expansion Panel; expectations with respect to commercialization, market opportunities, anticipated reductions in customer time and costs to identify variants of interest, and the development and shipment of PacBio products, including the PureTarget Repeat Expansion Panel; among other future events. You should not place undue reliance on forward-looking statements because they are subject to assumptions, risks, and uncertainties and could cause actual outcomes and results to differ materially from currently anticipated results, including, challenges inherent in developing, manufacturing, launching, marketing and selling new products; rapidly changing technologies and extensive competition in genomic sequencing; interruptions or delays in the supply of components or materials for, or manufacturing of, PacBio products and products under development; potential product performance and quality issues and potential delays in development timelines; third-party claims alleging infringement of patents and proprietary rights or seeking to invalidate PacBio's patents or proprietary rights; and other risks associated with general macroeconomic conditions and geopolitical instability. Additional factors that could materially affect actual results can be found in PacBio's most recent filings with the Securities and Exchange Commission, including PacBio's most recent reports on Forms 8-K, 10-K, and 10-Q, and include those listed under the caption "Risk Factors." These forward-looking statements are based on current expectations and speak only as of the date hereof; except as required by law, PacBio disclaims any obligation to revise or update these forward-looking statements to reflect events or circumstances in the future, even if new information becomes available.

Contacts

Investors:
Todd Friedman
ir@pacificbiosciences.com

Media:
Lizelda Lopez
pr@pacificbiosciences.com

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SOURCE Pacific Biosciences of California, Inc.

What is PacBio's new solution designed for?

PacBio's new PureTarget repeat expansion panel is designed for the comprehensive analysis of 20 genes associated with serious neurological disorders, including challenging-to-sequence genes with tandem repeat expansions.

Who is the President and CEO of PacBio?

Christian Henry is the President and Chief Executive Officer of PacBio.

When will the PureTarget panel be available for shipment?

The new PureTarget panel is expected to be available for shipment starting March 25, 2024.

What are some of the neurological diseases that the PureTarget panel targets?

The PureTarget repeat expansion panel targets genes implicated in neurological diseases like ataxia, Huntington's disease, myotonic dystrophy, ALS, FTD, and Fragile-X disease.

How many samples can customers multiplex on the PacBio Revio sequencing system?

Customers can multiplex up to 48 samples on the PacBio Revio sequencing system.