As multiplex assays and large tumor profiling projects become more common, standardization will be essential to enable confidence in experimental results. To date, a significant challenge has been access to reliable, renewable external reference standards. HDx’s novel Quantitative Multiplex DNA Reference Standard directly addresses this need by enabling researchers to quantify a range of detection thresholds for 11 cancer relevant mutations. This is accomplished across complex samples in a single assay in the form of renewable material originating from precisely engineered cell lines.
The reference standard is available today as genomic DNA and will be available in a matched formalin fixed paraffin embedded (FFPE) format in Q2, 2013. The mutations were engineered into endogenous loci using Horizon’s proprietary genome editing platform, GENESIS™.
HDx has verified the Quantitative Multiplex DNA Reference Standard using digital PCR and the product has undergone extensive validation by external partners using NGS platforms such as Ion Torrent™. Further validation is planned using MiSeq™ and Sequenom Mass Array™ Platforms.
“NGS workflows can be complex, typically involving extraction and amplification steps prior to sequencing and bioinformatic analysis. This gives scope for significant variability, which reduces confidence in the data generated, with the potential for some biomarkers being missed altogether,” Horizon’s VP of Products, Dr Paul Morrill, commented. “To date, HDx has been successful in enabling laboratories with reliable and renewable singleplex reference standards. With the development and launch of this new Multiplex Standard, HDx is better able to support customers as they address the complexity of tumor genetics, driving towards better understanding of disease and ultimately better patient care.”
HDx will be actively expanding its list of Multiplex Reference Standards over the coming months. The company is also open to working with clients seeking to develop custom standards with specific customer-defined genotypes and allelic frequencies.
About Horizon Diagnostics http://www.horizondx.com/
Horizon Diagnostics (HDx), a division of Horizon Discovery Ltd, is an industry-leading provider of quantitative molecular reference standards, including gDNA and cell culture derived FFPE sections. HDx uses a combination of gene editing and digital PCR to engineer reference standards with oncology relevant genotypes at precise allelic frequencies, enabling researchers to establish sensitivity and limit of detection for molecular assays on a routine basis. The vision is for HDx to become the global leader in provision of oncology reference standards across the full range of diagnostic platforms.
About Horizon Discovery http://www.horizondiscovery.com/
Horizon Discovery Limited (Horizon) is a leading provider of research tools to support translational genomics research and the development of personalized medicines. The Company’s proprietary rAAV gene-editing technology, GENESIS™, is industry leading. Using GENESIS, Horizon is able to alter any endogenous gene sequence of a human or mammalian cell-line quickly, reliably and without introducing unwanted and confounding genotypes and/or phenotypes.
Horizon has applied GENESIS to create over 500 X-MAN™ cell lines, the world’s first source of genetically-defined and patient-relevant human cell lines, accurately modeling the disease-causing mutations found in cancer patients. These ‘patients-in-a-test-tube’ are being used by academic and industry leaders to identify the effect of individual or compound genetic mutations on drug activity, patient responsiveness, and resistance, leading to the successful prediction of which patient sub-groups will respond to currently-available and future drug treatments. This enables the design of shorter, more focused, and less expensive clinical trials, ultimately providing the tools to identify the ‘right drugs’ for the ‘right patients’ based upon the unique genetic mutations that define their disease.
In addition to the X-MAN cell lines, Horizon provides GENESIS and X-MAN™ derived products and services, with industrial application in: bio-pharmaceutical process optimization; clinical diagnostic development; drug discovery & development; and the provision of reference standards for genomic-based clinical research platforms.
GENESIS and X-MAN are registered trademarks of Horizon Discovery Limited.
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Contacts:
At Horizon:
Dr Brian Burke
Business Development Manager
Tel: +44 (0) 1223 655 580
Email: b.burke@horizondiscovery.com
Media enquiries:
Katie Odgaard
Zyme Communications
Tel: +44 (0)7787 502 947
Email katie.odgaard@zymecommunications.com
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Horizon increases precision and utility of molecular assays for cancer genotype screening
7 March 2013
Horizon Diagnostics (HDx), a division of Horizon Discovery, a leading provider of research tools to support the development and prescription of personalized medicines, today announced it has launched its first Quantitative Multiplex DNA Reference Standard. This standard is the first of its kind and is intended for researchers assessing multiple biomarkers in a single assay, using platforms such as next generation sequencing (NGS).