Monday, June 19, 2023
Yourgene Health plc (AIM: YGEN), a leading international molecular diagnostics group, revealed novel findings today demonstrating the compatibility of prolonged blood storage in EDTA tubes with non-invasive prenatal testing (NIPT) through the implementation of size selection to enrich the fetal fraction. This approach offers a cost-effective alternative to using more expensive blood collection tubes (BCTs) and improves next-generation sequencing (NGS) workflows, thereby reducing the risk of failed screening tests for expectant mothers. The results of this research are currently being presented at the 27th International Conference on Prenatal Diagnosis and Therapy (ISPD) in Edinburgh, UK on June 19th, 2023.
Yourgene Health plc (AIM: YGEN) collaborated with Tommy's Charity and St Mary's NHS Hospital in Manchester, UK, to conduct a study using Yourgene's IONA® Nx NIPT Workflow. This validated clinical workflow employs next-generation sequencing (NGS) to assess the risk of trisomy in the fetus. The workflow incorporates Yourgene's proprietary Ranger® Technology, which enables size selection of DNA library material within a specific range. This feature enriches the fetal-derived cell-free DNA (cfDNA) fragments in the samples by reducing larger maternal DNA fragments. Yourgene has filed a patent application for the EDTA capability used in the study.
Many NIPT clinics and hospitals typically use expensive blood collection tubes (BCTs), such as Streck tubes, for maternal blood samples, which remain stable for up to 14 days. However, the presented data demonstrates the viability of utilizing EDTA tubes, which are more commonly used and significantly more cost-effective, with proven stability of up to 7 days.
The study highlights the importance of sample stability and handling in maintaining adequate levels of fetal fraction and ensuring successful NIPT outcomes. Sample instability can lead to cell lysis and the release of maternal genomic DNA, which dilutes the fetal-derived cfDNA and reduces the fetal fraction. The results of the study indicate that size selection can effectively recover the fetal fraction from whole blood stored in EDTA tubes for an extended period, surpassing the previous limitation of 8 hours.
Dr. Joanne Mason, Chief Scientific Officer at Yourgene Health, emphasized the significance of the study's findings, stating that they enhance the practicality of using EDTA tubes in NIPT, particularly in scenarios involving delayed sample transport between collection sites and analysis facilities. Moreover, this approach offers considerable cost savings by avoiding the use of expensive blood stabilizing tubes and associated licensing fees in the United States. The adoption of EDTA tubes provides greater flexibility and choice for laboratories and clinicians while ensuring fast, safe, and accurate screening results for patients.