Collaboration to Perform: Yourgene Microdeletions Plugin Accelerator – 24 May 2022

Yourgene Health is today unveiling the Yourgene Microdeletions Plugin Accelerator phase, following a successful pilot project with LifeStrands Genomics. This Accelerator represents a new era in Yourgene’s approach to delivery of NIPT testing solutions, with a focus on ‘Collaboration to Perform’. Working as a partnership, rather than the traditional laboratory/manufacturer relationship, represents a shared commitment to ensuring high-quality and performance-driven testing, ultimately delivering better outcomes for patients.

The Plugin has been designed for use with the IONA® Nx NIPT Workflow and has compatibility within Yourgene’s wider NIPT testing portfolio. The Plugin tests for microdeletions ≥3Mb in size, that are linked to a number of syndromes, namely Di George, Prader Willi & Angelman, 1p36 deletion, Cri du Chat and Wolf Hirschhorn syndromes.

What are Microdeletions?

Microdeletion syndromes are caused by chromosomal deletions that include several genes, but are too small (<5Mb) to be detected by karyotyping. A microdeletion is identified by genomic position and by size, and may be detected using high resolution cytogenetic techniques, such as fluorescent in situ hybridisation (FISH). They may be interstitial in nature, or terminal encompassing the end of the chromosome.

Many microdeletions result in a clinically benign phenotype, however some are characterised by a complex disorder.

Genome-wide non-invasive prenatal testing (NIPT)

There are currently many genome-wide approaches available for us to detect microdeletions. These approaches, such as karyotyping or array CGH, are often invasive in nature; testing is performed on material obtained from either chorionic villus sampling (CVS) or amniocentesis (AF). Using NIPT for microdeletion detection has the advantage of removing the risks to the pregnancy associated with invasive testing, and has the potential to replace the use of array CGH as the molecular cytogenetic approach of choice.

The prenatal detection of microdeletions is influenced by a number of factors, including the size of the microdeletion, position in the genome, the fetal fraction of the sample and the sequencing depth achieved for each tested sample. The performance of a test to detect a microdeletion(s) is also heavily influenced by the technology utilized for detection, including the accuracy, precision and background noise, as well as the analysis method itself, in combination with the above factors.

The Yourgene Microdeletions Plugin can detect microdeletions of ≥3Mb, and currently targets regions of the genome linked to Di George, Prader Willi & Angelman, 1p36 deletion, Cri du Chat and Wolf Hirschhorn syndromes.

What are the aims of the Accelerator?

The Pilot study has demonstrated the performance and usability of the Plugin to detect chromosomal microdeletions. The Accelerator phase aims to expand upon this validation work, ensuring the Plugin excels in precision, reliability and ease-of-use. We’ll be using this time to collect more data on performance, including gathering positive and negative predictive value estimates. The Accelerator phase will also include a priority focus project to develop collaborative, patient-friendly resources that help give care givers confidence in explaining test limitations and performance.

The feedback we gather from this phase will be put into action to ensure that the Plugin launched gives results you can not only trust, but truly understand.

We’re making a step change in how we work with NIPT providers. The traditional laboratory/manufacturer relationship is outdated, and doesn’t reflect our patient-centric vision. We’re harnessing the lessons learned from our experiences delivering our innovative genomic technologies andservices and we are excited to see what we can achieve when we truly collaborate to focus on outcomes, putting shared quality goals at the core of every relationship.

The launch of the Yourgene Microdeletions Plugin Accelerator phase follows a successful pilot project with LifeStrands Genomics, a leading clinical and translational genomics group from Singapore. We are now inviting interest from laboratories looking to join us to collaborate on this Accelerator phase, which is anticipated to last until late 2022. Current project performance data is available upon request. Priority will be given to existing Yourgene Health customers, in particular those currently using our NIPT testing solutions. All Accelerator participants are offered the chance to shape the future of expanded clinical testing for NIPT.

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