Horizon Discovery collaborates with St George’s University Hospital and EMQN


Horizon Discovery Group plc, a global leader in gene editing and gene modulation technologies, today announced it is collaborating with St George’s University Hospital, London, and the European Molecular Genetics Quality Network (EMQN), based within the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital, to develop reference material for non-invasive prenatal testing (NIPT).

Well-characterized reference material that consists of matched (related) maternal and fetal DNA with a variety of chromosomal aneuploidies is required to monitor NIPT test performance, but is not currently available. Horizon will apply its expertise to develop genetically defined, cell-line derived reference material to support quality assurance programs. Clinical samples for the project will be provided by St George's University Hospital and St Thomas’ Hospital, London. The EMQN will run a comprehensive validation study using its global network of laboratories performing NIPT.


Lisa Wright, Business Unit Leader, Diagnostics, Horizon Discovery, said: “Horizon has pioneered the development of well characterized, genetically defined reference standard material to support molecular diagnostics. We are delighted to be involved in this project.”


Professor Asma Khalil, St George's University Hospital, said: “There is increasingly widespread adoption of NIPT, both in the UK and internationally. Incorrect results can have detrimental effects on patient management, hence we as clinicians want to be confident that test results are accurate.”


Simon Patton, Director, EMQN, said: “External Quality Assessment (EQA) services are essential for any laboratory seeking to maintain and provide a quality service. Horizon’s genetically defined reference standards will be a great asset to aid with proficiency testing.”


The project is supported by funding from Innovate UK, the UK’s innovation agency.



About Non-Invasive Prenatal Testing

NIPT is an attractive alternative to invasive diagnostic procedures, allowing women at an elevated risk of having children with genetic disorders to determine the status of their fetus through a non-invasive test. This is possible because during gestation blood exchange between mother and child can occur, and so the genetic status of the fetus has the potential to be detected directly from the mother. Although NIPT is increasingly common, incidence of real positives can be low, and the risk of a false positive or negative result is significant and can have a major clinical impact1. There is therefore an urgent need to develop approaches to control for these errors.



  1. Non-Invasive Prenatal Testing (NIPT) Market Size, Share, Development, Growth and Demand Forecast to 2020, P&S Market Research, 2015

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 material, 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, formalin-compromised DNA, purified genomic DNA (gDNA), and cell-free DNA (cfDNA) on its own or spiked into synthetic plasma.


About The European Molecular Genetics Quality Network https://www.emqn.org/

The European Molecular Genetics Quality Network (EMQN) is a not-for-profit organization promoting quality in genetic testing by establishing, harmonizing and disseminating best practice.


The EMQN is based within the Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, UK, and hosted by Manchester University NHS Foundation Trust (MFT).


About Innovate UK www.innovateuk.ukri.org

Innovate UK drives productivity end economic growth by supporting businesses to develop and realize the potential of new ideas. Innovate UK connects businesses to partners, customers and investors that can help them turn ideas into commercially successful products and services and business growth. Innovate UK finds businesses and research collaborations to accelerate innovation and drive business innovation into R&D. This support is available to businesses across all economic sectors, value chains and UK regions. Innovate UK is part of UK Research and Innovation.




Horizon Discovery Group plc, a UK headquartered global life science company, is a world leader in gene editing and gene modulation.

Horizon Discovery