IONA Nx: Bringing a non-invasive prenatal testing concept to life

Our client asked:

The brief was to translate the mathematical algorithm at the heart of this noninvasive prenatal testing (NIPT) unit into a working diagnostic solution. The task was to build a functional software package to receive and analyse the DNA sequencer input, then detect any abnormalities related to chromosomes 13, 18 or 21. This had to be achieved in conformance with the CE medical device Class III (highest risk category) standard. The end goal was to ensure the software could integrate with various set-up configurations and third-party systems to provide fast and seamless foetal DNA analysis within an automated workflow.

The project story:

Our software engineers set about converting Yourgene Health’s mathematical algorithm into a highly usable software application. It needed to receive the DNA sequence information and, through complex optimisation of the software, perform analysis within an acceptable timeframe. We selected, then adapted, two open-source algorithms to perform the heavy lifting at the core of the application: The Burrows-Wheeler Transform (BWT) data transformation algorithm is used to restructure the input data to make it more compressible. The dynamic Smith-Waterman Algorithm (SWA) is used to search the DNA sequences. Both algorithms were converted into the C++ programming language and optimised for use within the high performance, parallelised IONA® Nx workstation. The application also allows input of patient information, some of which relates to characteristics which are considered risk factors for chromosomal trisomy. This data serves as input to the algorithm, both manually and through an electronic HL7 interface from a lab information system, ensuring a high standard of workflow efficiency. We also configured the application ecosystem to enable seamless deployment of plugins and licences to Yourgene Health’s customers.

Results: deliverables and outcomes

The IONA® Nx received CE marking with Class III medical device safety classification in June 2020. It launched in September 2020, positioned as ‘the first CE marked IVD for prenatal screening enabling clinical laboratories around the world to establish their own quality-assured NIPT screening service’.

Furthermore, our efforts to streamline and automate the DNA analysis resulted in the time per test cycle being reduced from 8-12 hours to 2 hours, improving the efficiency and cost-effectiveness of the process.

These achievements mark an important milestone in Yourgene Health and Sagentia Medical’s ongoing and successful partnership. We are now working as a development partner on Yourgene Health’s wider product ecosystem.

www.yourgene-health.com