Horizon Discovery partners with St George’s University Hospital and EMQN to develop reference material for NIPT

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.

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.”

Lisa Wright, Business Unit Leader, Diagnostics, Horizon Discovery

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.”

Professor Asma Khalil, St George's University Hospital

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."

Simon Patton, Director, EMQN

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