New whole-genome sequencing software seeks to advance paediatric care

Oxford Nanopore and Fabric Genomics have teamed up to develop a scalable software solution for the end-to-end analysis and clinical reporting of rich genomic data.

It is estimated that roughly 2.8 million children in the US reported a rare genetic disorder, according to data from the National Survey of Children’s Health.

The joint solution, which will be commercially available for deployment in CLIA and CAP-certified labs, will support the use of nanopore sequencing in neonatal and paediatric intensive care units.

Oxford Nanopore said the collaboration will bring the benefits of richer data and faster insights to support rapid disease characterisation of babies and children with genetic disorders.

“For this incredibly high-risk patient population, speed and data-rich insights matter,” said Gordon Sanghera, CEO of Oxford Nanopore Technologies.

“We are excited to team up with Fabric Genomics to develop an end-to-end analysis tool for the clinical reporting of nanopore sequencing data in paediatric care settings that will make it easier for healthcare providers to leverage genetic insights and, in the future, support the health and wellbeing of children and families.”The end-to-end workflow will integrate Oxford Nanopore EPI2ME software with Fabric’s SaaS platform to provide analysis and clinical reporting.

Clinicians and healthcare providers will also be connected to Fabric’s network of clinical geneticists who can help clinicians interpret their dataset. While initially focused on the highest complexity testing for paediatrics in the NICU, the partners expect to launch additional push-button solutions for late-onset genetic conditions including cancer and cardiovascular disease at a later stage.

“We’re excited to partner with the fast-driving team at Oxford Nanopore to integrate our AI-driven whole-genome sequence solution with nanopore sequencing and help to accelerate the adoption of that technology in the clinic,” said Martin Reese CEO and co-founder of Fabric Genomics.

“Oxford Nanopore’s real-time genomic reading technology represents an important opportunity to speed critical analysis of children’s genomes in NICU settings and for all genomic medicine patients.”

The new platform will be powered by Fabric GEM, a novel artificial intelligence algorithm, to help healthcare providers sort through thousands of structural variants and potential pathogenic mutations and prioritise a short list of areas of interest.

The software is available now to customers on a limited basis and will be widely available in the first quarter of 2024.