Horizon Discovery introduces Multiplex cfDNA Reference Standard for EGFR mutations to support liquid biopsy assays
- First-to-market cfDNA Reference Standard specific for EGFR gene mutations adds to Horizon’s existing portfolio of cfDNA controls
- Horizon’s EGFR Multiplex cfDNA Reference Standard allows laboratories to optimize, validate and routinely monitor performance of PCR-based tests, NGS, and other novel assays
- Covers EGFR mutations implicated in the responsiveness to EGFR tyrosine kinase inhibitors and to anti-EGFR monoclonal antibodies from cfDNA
Cambridge, UK, 05 December 2017: Horizon Discovery (LSE: HZD) (“Horizon” or “the Company”), a global leader in gene editing and gene modulation technologies, today announces the launch of its new cell line-derived epidermal growth factor receptor (EGFR) Multiplex cell-free DNA (cfDNA) Reference Standard. The new Reference Standard allows laboratories and assay developers to optimize, validate and routinely monitor performance of polymerase chain reaction (PCR)-based tests, next generation sequencing (NGS), and other novel assays designed to detect EGFR mutations from cfDNA.
Horizon’s EGFR Multiplex cfDNA Reference Standard covers ten of the most clinically relevant mutations that predict responsiveness to EGFR tyrosine kinase inhibitors (EGFR-TKIs), including T790M, L858R, C797S and E746-A750del. These variants have been carefully selected to represent a mix of different mutation types, such as SNPs and INDELs, which are challenging for laboratories to detect.
EGFR is a transmembrane protein overexpressed in a variety of cancers, especially in non-small-cell lung cancer (NSCLC), which results in uncontrolled cell proliferation, invasion and metastasis. Overexpression of EGFR renders cancer cells sensitive to EGFR-TKIs; however acquired EGFR resistance mutations frequently occur over the course of treatment. Previously, assays were designed to detect those mutations from solid tumor tissues, but with advances in liquid biopsy testing, laboratories are now moving towards establishing assays that can detect those mutations from plasma.
One of the major challenges of liquid biopsy assays is detecting mutations from very small quantities of DNA at low allelic frequency. Horizon’s EGFR Multiplex cfDNA Reference Standard is cell line-derived and supplied in a DNA fragment range of 160 base pairs, which is comparable to the DNA size found in real samples. The Reference Standard comes in a set of four vials, with allelic frequencies from 5% down to 0.1%, along with a matched EGFR wild type, enabling determination of assay specificity, sensitivity and limit of detection.
There are currently a range of assays on the market that can detect acquired resistance mutations in EGFR, including both PCR-based and NGS approaches. Horizon’s EGFR Multiplex cfDNA Reference Standard has been extensively tested on all major platforms and can be used with a wide range of assays to validate, optimize, and routinely monitor performance.
Dr. Darrin M Disley, CEO, Horizon Discovery, commented: “As our understanding of the genetic drivers of disease continues to improve, powerful biomarkers such as those in cfDNA are emerging and having a significant impact. Horizon is a leader in the development of genetically defined reference standards, and we are continually innovating, seeking to expand the range and value of the products we offer. We are proud to offer this new multiplex EGFR standard, supporting laboratories and assay developers as they adapt and implement new technologies such as liquid biopsy assays.”
Find out more about the new EGFR Multiplex cfDNA Reference Standard:
https://www.horizondiscovery.com/egfr-multiplex-cfdna-reference-standard-hd825
EGFR Multiplex cfDNA Reference Standard
About Horizon’s Reference Standards
There are many potential sources of variability that can lead to molecular diagnostic tests providing erroneous results. Horizon’s Reference Standards offer a source of genetically defined, quantitative, sustainable and independent third-party reference materials, critical to the validation and routine performance monitoring of assays, providing an unprecedented level of control. Horizon Reference Standards are available in a broad range of formats, including Formalin-Fixed Paraffin-Embedded (FFPE) cell line sections, purified genomic DNA (gDNA), and cell-free DNA (cfDNA) on its own or spiked into synthetic plasma.
Glossary:
- Allelic frequency: the frequency of occurrence or proportions of different alleles of a particular gene in a given population
- Assay: a laboratory procedure measuring the presence, amount, or functional activity of a specific biomarker or analyte
- cfDNA: circulating cell-free DNA are small DNA fragments found circulating in plasma or serum, as well as other bodily fluids
- Next Generation Sequencing (NGS): high-throughput sequencing of DNA (or RNA) by parallelizing the sequencing process, producing thousands or millions of sequences concurrently
- Polymerase chain reaction (PCR): molecular technique that amplifies DNA
- Reference standard: a standardized substance (e.g. DNA, protein) which is used as a measurement base or control for an assay
About Horizon Discovery Group plc www.horizondiscovery.com
Horizon Discovery Group plc (LSE: HZD) ("Horizon") is a world leader in gene editing and gene modulation technologies. Horizon designs and engineers cells using its translational genomics platform, a highly precise and flexible suite of DNA editing tools (rAAV, ZFN, CRISPR and Transposon) and, following the acquisition of Dharmacon, Inc., its functional genomics platform comprising gene knockdown (RNAi) and gene [removed]cDNA, ORF) tools, for research and clinical applications that advance human health. Horizon’s platforms and capabilities enable researchers to alter almost any gene or modulate its function in human or mammalian cell-lines.
Horizon offers an extensive range of catalogue products and related research services to support a greater understanding of the function of genes across all species and the genetic drivers of human disease and the development of personalised molecular, cell and gene therapies. These have been adopted by over 10,000 academic, drug discovery, drug manufacturing and clinical diagnostics customers around the globe, as well as in the Company’s own R&D pipeline.
Horizon is headquartered in Cambridge, UK, and is listed on the London Stock Exchange’s AIM market under the ticker “HZD”.
Zyme Communications (Trade and Regional Media) Katie Odgaard Tel: +44 (0)7787 502 947 Email: katie.odgaard@zymecommunications.com
