This week, Oxford Nanopore and Fabric Genomics announced a collaboration to provide a sequencing analysis platform for neonatal and pediatric intensive care units (ICUs) to help clinical doctors diagnose rare genetic diseases in children. The two parties will connect Oxford Nanopore’s EPI2ME sequencing technology with Fabric Genomics’ AI-driven whole-genome sequencing solution.
The deployment of nanopore sequencing in neonatal/pediatric ICUs will be carried out in CLIA/CAP laboratories. This will support the use of nanopore sequencing in neonatal and pediatric intensive care units to provide richer data and rapid insights to aid in the rapid characterization of diseases in infants and children in acute settings. As part of this project, the two parties will use nanopore sequencing analysis on up to 7,500 samples from participants in the 100,000 Genomes Project, who have various genetic or suspected genetic diseases.
The new platform is currently being offered to customers on a limited basis and will be widely available in Q1 2024.
Approximately one in ten Americans suffers from rare diseases, with about half being children. According to data from the National Survey of Children’s Health in the United States, it is estimated that around 2.8 million children in the United States report having a rare genetic disease. Of the more than 6,800 confirmed rare diseases, 72% are genetic, and 70% of rare genetic diseases begin in childhood.
Fabric Genomics is a leading healthcare and bioinformatics company that focuses on genome data analysis and interpretation. The company’s primary focus is to provide comprehensive solutions to help clinical doctors, geneticists, and researchers understand genomic data to improve patient care and drive scientific discoveries. Fabric Genomics offers sophisticated tools and algorithms for analyzing genome data, including next-generation sequencing (NGS) data, exome sequencing, and whole-genome sequencing. Their platform can handle a large amount of genetic information and extract meaningful insights. For this reason, in March of last year, The Broad Institute, one of the world’s most authoritative research institutions, chose to implement clinical whole-genome sequencing in collaboration with Fabric Genomics.
In June 2023, Oxford Nanopore partnered with Genetex to develop a software solution for end-to-end analysis and clinical reporting of nanopore sequencing data. This platform is also integrated with Oxford Nanopore’s EPI2ME for secondary sequence analysis.
It is evident that Oxford Nanopore is actively exploring various fields to tap into broader markets for its third-generation sequencing technology.
