Improving non-invasive prenatal testing

Horizon Discovery collaborates with St George’s University Hospital and EMQN to develop reference material for non-invasive prenatal testing

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Cambridge, UK—Horizon Discovery Group plc announced today a collaboration 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). The project is supported by funding from Innovate UK.
“Horizon has pioneered the development of well characterized, genetically defined reference standard material to support molecular diagnostics,” said Lisa Wright, business unit leader, Diagnostics, Horizon Discovery. “We are delighted to be involved in this project.”
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 plans to 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.
Professor Asma Khalil, St George’s University Hospital, noted that “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.”
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. During gestation blood exchange between mother and child can occur, and 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 impact. There is an urgent need to develop approaches to control for these errors.
There are many potential sources of variability that can lead to molecular diagnostic tests providing erroneous results. According to Horizon, their 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), either on its own or spiked into synthetic plasma.
“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,” added Simon Patton, director, EMQN.

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