
Oxford Nanopore and Fabric Genomics Collaborate on Pediatric Genomic Solution Set Using Nanopore Sequencing Technology and Fabric’s Informatics
10-31-23 (by: Scott Gleason) Oxford Nanopore Technologies and Fabric Genomics have announced a new partnership to develop a scalable software solution for the comprehensive analysis and clinical reporting to be used by pediatric intensive care units for children diagnosed with genetic disorders. The collaboration will result in an end-to-end workflow that simplifies the interpretation of nanopore’s sequencing technology. By integrating Oxford Nanopore’s EPI2ME™ software with Fabric Genomics’ software-as-a-service platform, the partnership will provide comprehensive analysis and clinical reporting capabilities. Furthermore, clinicians and healthcare providers will have access to Fabric’s network of clinical geneticists who can assist in the interpretation of the sequencing data. The new platform, expected to be widely available in Q1 2024, will be powered by Fabric Genomics’ novel artificial intelligence algorithm called Fabric GEM. This AI technology will help healthcare providers navigate thousands of structural variants and potential pathogenic mutations. It will prioritize a concise list of areas of interest, saving time and reducing costs in the diagnosis process.
Approximately 2.8 million children in the United States suffer from rare genetic disorders, as reported by the National Survey of Children’s Health. Rare diseases pose significant challenges, as over two-thirds of them are genetic, and 70% manifest in childhood. These conditions result from genetic mutations present at birth, encompassing diseases like cystic fibrosis and Duchenne muscular dystrophy. The journey to diagnose these conditions is often a protracted odyssey, involving multiple specialists and tests, leading to misdiagnoses and delayed treatment. Furthermore, individuals with rare diseases encounter disparities in accessing care, participating in research, and obtaining treatment options, fostering feelings of isolation both within their communities and due to geographical distance from others sharing their condition. Fabric Genomics has already undertaken significant development work in pediatric genetics. Their partnership with Rady Children’s Institute for Genomic Medicine has accelerated the diagnosis of rare genetic diseases, providing hope and solutions for critically ill newborns and rare disease patients. Results have shown that Fabric AI GEM can predict causative variants in the genomes of previously diagnosed newborns and patients with rare diseases.
Gordon Sanghera, CEO of Oxford Nanopore Technologies, emphasized the importance of swift and data-driven diagnosis, stating, “For this incredibly high-risk patient population, speed and data-rich insights matter.” The partnership between Oxford Nanopore and Fabric Genomics aims to streamline the process of analyzing nanopore sequencing data, enabling healthcare providers to harness genetic insights to support the health and wellbeing of children and their families.
The companies also announced future plans to develop additional solutions for the late-onset genetic conditions such as cancer and cardiovascular diseases.