London Calling 2023: Empowering NHS rapid diagnostic testing with long-read DNA sequencing

The Exeter NHS Genomics Laboratory delivers the national rapid whole-genome sequencing service for children in England. Currently, this ground-breaking service provides a diagnosis for 41% of the 1,200 babies and children tested each year, with a turn-around time of less than 10 days. This national success story demonstrates the power of genomic medicine to transform clinical care and improve healthcare outcomes. Recently, the Exeter NHS Laboratory became the first centre to embed a PromethION 24 within an NHS laboratory. Learn about how our project is investigating the power of long-read sequencing to phase genetic variants increasing diagnostic yield for children in whom only one or neither parent is available for testing, reducing time to diagnosis and the need for parallel genetic testing. Utilising analysis approaches developed in the research setting, we will illustrate with clinical case examples the potential for Oxford Nanopore technology to revolutionise the approach to rapid diagnostic practice in the critical care setting.