Prenatal Testing: An Alternative Approach

Genetic screening is normally performed during pregnancy to detect hereditary conditions caused by a chromosomal abnormality, such as Down’s syndrome, or modifications in the DNA sequences. It usually involves an invasive amniocentesis process.

Products and services for prenatal screening

Image credit: Tecan

Yourgene Health is an international molecular diagnostics group that has designed a non-invasive, automated alternative for safer and more precise prenatal screening.

Headquartered in Manchester, United Kingdom, Yourgene Health was founded in 2013 as a non-invasive prenatal testing (NIPT) firm. Since that time, the company has developed into a worldwide molecular diagnostics firm with more offices in Canada, the United States, and Singapore, with laboratories in Taiwan.

Yourgene Health has also extended its products and services to include infectious diseases, precision health, oncology, and reproductive health tools. At present, the company has a global customer network that comprises clinical laboratories, healthcare professionals, and even product development projects with diagnostic and biotech organizations.

We offer a range of molecular diagnostic products and services based on  a range of technologies including NGS and PCR —chosen according to the level of detail that the application requires and how rapid the test needs to be—supported by an active new product development pipeline.”

Joanne Cross, Director of Marketing, Yourgene Health

Advanced workflow

The IONA® test is one of the company’s flagship products, which, when compared to amniocentesis, provides a safer and more accurate method to screen for trisomy 13 (Patau’s syndrome), trisomy 21 (Down’s syndrome), and trisomy 18 (Edwards’ syndrome).

Healthcare providers can deliver their samples to Yourgene Health for analysis. Alternatively, clinical laboratories can set up an in-house workflow to carry out the test manually with a turnaround time of three days, or in two days using the company’s newly introduced automated solution, called the IONA Nx NIPT Workflow (CE-IVD). Laboratories also have the flexibility to select the type of workflow that ideally suits their particular requirements.

The Yourgene® SP150 was only launched in September and is integral to the IONA Nx NIPT Workflow. It is based on a Tecan Freedom EVO® 150 workstation with an Air Liquid Handling Arm™ and a Robotic Manipulator Arm™, and is equipped with plate hotels, an automated thermocycler, temperature control, a shaker, a magnetic separator, and a barcode scanner.”

Sarah Zheng, Automation Team Leader, Yourgene Health

The workflow starts with the extraction, amplification, and library preparation of DNA from a maternal plasma specimen on the Yourgene® SP150. Tubes are positioned on the deck, and barcodes are scanned to capture the sample data, which is then transferred to the front-end Workflow Manager of the system and the LIMS. Magnetic bead-based technology is then used to extract DNA. Advantageously, this process can be run through the night.

By morning, a microplate comprising the extracted DNA preserved at a temperature of 4°C is available for amplification and library preparation. A walkaway automation like this is a true benefit for the laboratory.

Yourgene QS250 system

Enrichment and measurement of the fetal DNA are subsequently carried out on the Yourgene QS250 system in a 384-well format, followed by downstream NGS on an Illumina NextSeq™ system.

Towards the end of the process, the information is automatically examined using the IONA software, and a report is produced. It takes only two days to perform the entire process, compared to three days manually.

If customers are designing a new platform, they will require a trustworthy supplier who has worldwide coverage and is ready to work closely with them. According to the feedback from the Yourgene group, Tecan participated much more ardently when compared to other providers during the technology and the supply evaluation stage.

The design phase was led by Yourgene, with valuable input from Tecan’s technical experts to customize the system for our workflow, and we developed the majority of the scripts in house. 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.”

Sarah Zheng, Automation Team Leader, Yourgene Health

Reliability is crucial, and Tecan has a worldwide supply and support base. The company has customers across the world and performs its own first-line technical support, such as setting up the entire workflow in the laboratory of a customer and training the employees.

A single, streamlined platform

Yourgene Health required a platform that was easy to integrate into the IONA Nx NIPT workflow and was intuitive to train people up on. While the company’s previous IONA workflow on the Ion Torrent™ sequencing system needed two instruments to extract the DNA, Yourgene® SP150 enables everything to be performed on just one platform.

The system has a smaller footprint, which means it takes up relatively less space in the laboratory, and customers benefit from a single service contract. On the whole, the platform has redefined this workflow, saving time and boosting efficiency.

At present, the system can process up to 48 specimens for each sequencing run in a 96-well format. However, Yourgene Health is already exploring options to design a better model that will considerably boost this throughput to suit the requirements of even more users.

About Tecan

Tecan is a leading global provider of automated laboratory instruments and solutions. Their systems and components are used in clinical diagnostics, basic and translational research, and drug discovery, helping companies to bring their science to life.

In particular, they develop, produce, market and support automated workflow solutions that empower laboratories to achieve more. Their Cavro branded instrument components are chosen by leading instrumentation suppliers across multiple disciplines.

They work side by side with a range of clients, including diagnostic laboratories, pharmaceutical and biotechnology companies and university research centers. Their expertise extends to developing and manufacturing OEM instruments and components, which are marketed by their partner companies. Whatever the project – large or small, simple or complex – helping their clients to achieve their goals comes first.

They hold a leading position in all the sectors they work in and have changed the way things are done in research and development labs around the world. In diagnostics, for instance, they have raised the bar when it comes to the reproducibility and throughput of testing.

In under four decades, Tecan has grown from a Swiss family business to a brand that is well established on the global stage of life sciences. From pioneering days on a farm to the leading role our business affairs today – empowering research, diagnostics and many applied markets around the world.


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Last updated: Jul 8, 2021 at 10:47 AM

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