Under the terms of the agreement, HDx will provide genetically defined human cell line reference standards for distribution to molecular diagnostic laboratories around the world, as part of EMQN’s annual External Quality Assessment (EQA) schemes to ensure sensitivity and reproducibility of diagnostic assays.
The reference materials provided by Horizon will contain known frequencies of mutations that currently guide the prescription of cancer therapies, and particularly melanoma, colon and lung cancers. The reference materials will be distributed to participants in EMQN’s proficiency testing schemes, which will be assessed for their ability to accurately test the samples and provide a clear and concise test report on the results.
Diagnostic EQA providers face significant difficulties in sourcing reliable reference materials for diagnostics testing, either from patient samples or immortalized cell lines, especially as increasing numbers of rare mutations are being discovered. Horizon’s reference standards overcome this by reconstituting mutations of interest in human cell lines using its proprietary genome editing technology, GENESIS™, and creating a defined wild-type parental to mutant ratio in each sample.
Dr Paul Morrill, Commercial Director, Horizon Discovery, commented: “Quality assurance schemes such as those organized by EMQN are essential to ensure that patients receive the correct treatment regimen based on their tumor mutation status. Horizon’s technology offers pathologists and biologists an unprecedented level of control, and a resource for benchmarking the performance of assays against validated empirical reference standards. This is an invaluable component of patient care.”
Dr Simon Patton, Director of EMQN, said: “The availability of Horizon’s defined reference standards enables vastly improved proficiency testing across the diagnostics industry. We look forward to working with Horizon on developing standards for the increasing number of clinically relevant mutations that are supported through our EQA schemes.”
For more information on Horizon’s FFPE standards please visit www.horizondx.com
For more information on EMQN please visit www.emqn.org
About Horizon Diagnostics
Horizon Diagnostics (HDx), a division of Horizon Discovery Ltd, is the world’s first provider of genetically defined, human genomic reference standards, including FFPE cell line blocks, and purified gDNA. These standards offer a sustainable source of reference material to diagnostic laboratories, proficiency schemes, and manufacturers, and provide an unprecedented level of control to the molecular pathology community.
Variability in DNA extraction from tumour biopsies and a lack of standardization are currently major sources of error in diagnostic laboratories. The availability of genetically defined controls will provide an industry standard for development and quality control of assays, directly improving analytical accuracy and clinical outcomes.
HDx’ suite of reference material includes standards for the increasing number of ‘rare’ mutations being targeted for cancer therapeutics, which by definition are hard to find in clinical samples. Drawing upon Horizon Discovery’s proprietary genome editing technology, GENESIS™, HDx reconstitutes clinically relevant cancer genes in human cell lines, exactly as they occur in a patient’s tumor. This technology approach enables HDx to define virtually every characteristic of its reference standards, from the molecular constitution of the genome, to the diameter, width and DNA output associated with each product batch. HDx is also adapting its technology to serve immunohistochemistry (IHC) and fluorescent in-situ hybridisation (FISH) based diagnostic tests.
About EMQN
EMQN is a not-for-profit organisation with a mission to promote quality in genetic testing world-wide. It does this by organising External Quality Assessment (EQA) schemes which involve sending reference materials to labs and asking them to report their testing results back to EMQN. It also works to harmonise professional practice by developing consensus-based guidelines.
EMQN is the largest provider of EQA activities to molecular genetic testing labs in the world with over 950 registered labs from 52 countries. Its EQA activities focus on hereditary genetic diseases (e.g., familial cancers of the breast, colon and eye), molecular pathology (e.g., tumour markers important in indicating response to cancer drugs) and molecular techniques (e.g., DNA Sequencing).
The recent explosive growth in the use of genomic technologies and the proliferation of direct-to-consumer genetic testing raise challenges to traditional models of quality assurance. EMQN is responding to these challenges with innovative solutions (such as EQA for Molecular Pathology, Next Generation DNA sequencing, and non-invasive prenatal diagnosis) and through collaborations with like-minded organisations such as HDx, and UK NEQAS.
Participation in EQA activities is an essential component of ensuring the quality of the testing process since it looks at all stages of the process from sample receipt to reporting of test results. There is good evidence to show that participation in EQA improves laboratory performance and is especially powerful at identifying systematic errors such as failure of diagnostic test kits.
The EMQN was founded in 1998 with seed funding from the European Union. Since 2002, it has been entirely self-funded through subscriptions from its participating labs. It is co-ordinated from headquarters in Manchester (UK) and accredited by the United Kingdom Accreditation Service (UKAS) to the ISO17043 standard for EQA providers.
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Contacts:
At Horizon:
Dr Paul Morrill
Commercial Director
Tel: +44 (0)1223 655 580
Email: p.morrill@horizondiscovery.com
Media enquiries:
Katie Odgaard
Zyme Communications
Tel: +44 (0)7787 502 947
Email katie.odgaard@zymecommunications.com
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