Horizon Discovery Launches Multiplex I cfDNA Reference Standard Set in


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Horizon Discovery Launches Multiplex I cfDNA Reference Standard Set in Synthetic Plasma


.New format directly addresses DNA extraction, one of the key sources of variability in cfDNA assays

· Reference standard provides control throughout entire molecular assay workflow

Horizon Discovery Group plc (LSE: HZD) ("Horizon"), the world leader in the application of gene editing technologies including molecular reference standards, today announces the launch of its first HDx™ cfDNA (cell-free DNA) Reference Standard in Synthetic Plasma. 

Since being pioneered by Horizon co-founder Professor Alberto Bardelli for the detection of KRAS mutations in serum to identify resistant populations to EGFR targeted therapy, liquid biopsy testing has emerged as one of the fastest growing areas in diagnostics, with cfDNA testing set to reach $9.0 billion by 20221. Non-invasive testing offers the possibility of earlier disease detection and more effective treatment, even more so for conditions such as lung cancer which are difficult to biopsy.

cfDNA based diagnostics are at a particularly high risk of error however, as these tests involve extracting a small amount of DNA from a large volume of plasma, and an assay may be required to identify as few as 50 copies of a target sequence that has already undergone DNA damage. This is further complicated by the amount of cfDNA present in a sample being highly variable patient to patient. Together, these factors can lead to considerable uncertainty regarding the amount of material available after DNA extraction, and a significant risk of over or under loading an assay. 

It is essential therefore that clinical laboratories extract, and reliably quantify, as much cfDNA as possible. Horizon’s new Multiplex I cfDNA Reference Standard Set in Synthetic Plasma directly addresses this problem by allowing users to control for the entirety of their workflows, from sample extraction through to result reporting, interrogating the sources of variability at each step so they can address them.

Developed using clinically-relevant mutations, the Multiplex I cfDNA Reference Standard Set in Synthetic Plasma contains eight cancer-relevant mutations including BRAF, EGFR, KRAS, NRAS, and PIK3CA at 5%, 1%, and 0.1% allelic frequencies2. These mutations are associated with multiple forms of cancer including breast, colorectal, pancreatic and particularly lung, where one specific mutation covered in the panel, EGFR T790M, is associated with Iressa® (Gefitinib) resistance. This is an essential tool for scientists seeking to understand and control variation in molecular testing. By engineering the reference standard in plasma, full understanding of assay performance from extraction and quantification through to analysis and informatics is possible, mimicking the challenges of dealing with human material.

Dr. Darrin Disley, CEO, Horizon Discovery Group, commented: “Horizon is committed to helping ensure that molecular diagnostic testing is as accurate as possible, so that laboratories can be confident when providing assay results to clinicians. The launch of our Multiplex I cfDNA Reference Standard Set in Synthetic Plasma further demonstrates Horizon’s position as a leader in the liquid biopsy space and as a trusted provider of molecular reference standards to a rapidly expanding list of clinical laboratories, proficiency schemes and manufacturers.”


2. Research Use Only

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Notes for Editors:

Horizon Discovery Multiplex I cfDNA Reference Standard Set in Synthetic Plasma
For a high resolution image please contact Zyme Communications

About Horizon’s cfDNA Reference Standards

High throughput platforms such as Next Generation Sequencing (NGS) and quantitative PCR (qPCR) give researchers much greater power when profiling cfDNA samples. However, the use of these presents challenges surrounding sample variability, platform bias, and potential failure to detect biomarkers. HDx cfDNA Reference Standards offer a source of genetically defined, quantitative, sustainable and independent third party reference material, critical to assay validation and routine performance monitoring. These products are all derived from human cell lines, and are fragmented to an average size of 160 bp to closely resemble cfDNA extracted from human plasma. This format ensures that they may applied to a wide-range of NGS and qPCR assays including high-throughput platforms, and these standards are available as both extracted nucleic acid and in synthetic plasma. 

For further information about Horizon Discovery Group plc, please contact:

Zyme Communications (Trade and Regional Media)
Katie Odgaard
Tel: +44 (0)7787 502 947

Horizon Discovery Group plc
Chris Claxton, VP Investor Relations and Corporate Communications
Tel +44 (0) 1223 655 580

Consilium Strategic Communications (Financial Media and Investor Relations)
Mary-Jane Elliott, Susan Stuart, Matthew Neal, Melissa Gardiner
Tel: +44 (0) 20 3709 5701

About Horizon Discovery Group plc

Horizon Discovery Group plc (LSE: HZD) ("Horizon"), is a world-leading gene editing company that designs and engineers genetically-modified cells and then applies them in research and clinical applications that advance human health.

Horizon’s core capabilities are built around its proprietary translational genomics platform, a highly precise and flexible suite of gene editing tools (rAAV, ZFN and CRISPR) able to alter almost any gene sequence in human or mammalian cell-lines.

Horizon offers over 23,000 catalogue products and related research services, almost all of which are based on the generation and application of cell and in vivo models that accurately recapitulate the disease-causing genetic anomalies found in diseases like cancer. Horizon’s commercial offering has been adopted by c1,600 unique research organisations in over 50 countries as well as in the Company’s own R&D pipeline to support a greater understanding of the genetic drivers of disease and the development of molecular, cell and gene therapies that can be prescribed on a personalised basis.

Horizon is headquartered in Cambridge, UK, and is listed on the London Stock Exchange’s AIM market under the ticker “HZD”.  

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