Bringing a non-invasive prenatal testing concept
to life while satisfying Class III medical device
requirements

Yourgene Health had developed a bioinformatics method to diagnose three
forms of foetal chromosomal trisomy: Down Syndrome, Edward Syndrome and
Patau Syndrome. Using a maternal blood plasma sample rather than amniotic
fluid, it eliminates the need for the invasive amniocentesis procedure traditionally
associated with prenatal testing for genetic conditions. Molecular diagnostics
specialist Yourgene Health sought technical support from Sagentia Innovation in
the development of its IONA® Nx product.

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 Innovation’s ongoing and successful partnership.
We are now working as a development partner on Yourgene Health’s
wider product ecosystem.

www.yourgene-health.com