Improving efficiency and safety of prenatal testing
Genetic screening is used during pregnancy to look for hereditary conditions caused by chromosomal abnormalities or changes in the DNA sequences, and typically involves an invasive amniocentesis procedure. Yourgene Health offers a range of prenatal molecular diagnostics products and services based on NGS and PCR technologies. Its flagship product is the IONA® test, an automated and non-invasive prenatal screening method, which offers a more accurate and safer approach than amniocentesis to detect trisomies 21 (Down’s syndrome), 18 (Edwards’ syndrome) and 13 (Patau’s syndrome). Joanne Cross, Director of Marketing, explained: “Healthcare providers can send samples to us for analysis, or clinical laboratories can set up the workflow in house and perform the test in two days using our recently launched automated solution, the CE-IVD IONA Nx NIPT Workflow.”
A refined platform
An early version of the IONA workflow on the Ion Torrent™ sequencing system required two instruments for the DNA extraction. Yourgene identified the need to increase efficiency and save time in this workflow, and looked for a reputable supplier to aid the development of a more compact, single-instrument solution.
The Yourgene team were impressed by the way Tecan engaged enthusiastically during the technology and supply evaluation phase, and so worked with Tecan to develop and launch the Yourgene® SP150. This system can process up to 48 samples per sequencing run in 96-well format, and also offers a smaller footprint that takes up far less space in the lab.
Automation Team Leader Sarah Zheng added: “When you are developing a new platform, reliability is important, as is a global supply and support network, and Tecan offers both. Our aim was to design a platform that was easy to integrate into the IONA Nx NIPT Workflow, and intuitive to train people up on. Tecan’s technical experts provided valuable input to customize the system for our workflow.”
The SP150 is based on a Freedom EVO® 150 workstation equipped with an Air Liquid Handling Arm™ and a Robotic Manipulator Arm™, as well as plate hotels, an automated thermocycler, temperature controller, shaker, magnetic separator and barcode scanner. Joanne continued: “The workflow begins with the extraction, amplification and DNA library preparation from a maternal plasma sample, which is all performed on the SP150. Tubes are placed on the workdeck, and the barcodes are scanned to register the sample information, which is transferred to the system’s front-end Workflow Manager from the LIMS. DNA is extracted using magnetic bead-based technology, which can be run overnight so that, by the morning, a microplate containing the extracted DNA stored at 4 °C is ready for amplification and library preparation. Quantification and enrichment of the fetal DNA is then performed on the Yourgene QS250 instrument in a 384-well format, after which downstream NGS is carried out on an Illumina NextSeq™ system. At the end of the process, the data is automatically analyzed with the IONA software and a report generated. The whole process takes two days, compared to three days manually.”
“One of the advantages of the Freedom EVO is its open application programming interface, as this gives you a lot of potential to develop a fully integrated system, with complete traceability when combined with a LIMS. Overall, the platform has transformed this workflow; this walkaway automation is a real advantage, increasing efficiency and saving time,” Sarah concluded.