Empowering NHS rapid diagnostic testing with long read DNA sequencing

Abstract

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 and reduce 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.

Meet the speakers

Emma is Professor of Genomic Medicine at the University of Exeter, a Consultant Clinical Geneticist at the Royal Devon University Healthcare NHS Trust, Medical Director for the South West Genomic Laboratory Hub and Medical Lead for the NHS National Rapid Genome Sequencing Service for Acutely Unwell Children in England. Emma is also co-chair of the NHS England Rare Disease Test Evaluation Working Group. Between 2015 and 2020, Emma was the Clinical Lead for Rare Disease Validation and Feedback at Genomics England. Her principal area of interest is in the use of new and emerging genomic technologies to identify the cause of rare genetic disorders and the translation of that knowledge into improved clinical diagnostic testing and treatment strategies.