Horizon’s Reference Standards to Minimize Variability in Cancer Diagnostic Testing

Horizon Diagnostics (HDx) a division of Horizon Discovery Ltd, has announced that it has signed a strategic partnership agreement with the European Molecular Genetics Quality Network (EMQN) to provide genetically defined human genomic reference standards for cancer diagnostic proficiency testing schemes.

The reference materials provided by Horizon will contain known frequencies of mutations that currently guide the prescription of cancer therapies, in particular 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 use reference materials from either patient samples or immortalized cell lines. Providers can find it difficult to source reliable reference materials for this purpose, in particular because 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.”