Horizon Diagnostics (HDx) has announced that it has signed a strategic partnership agreement with the European Molecular Genetics Quality Network (EMQN).
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.”