Big Data in Genomics

The Exeter Genomics Laboratory implemented a diagnostic rare disease exome pipeline in 2013 and in October 2019, it launched the new NHSE nationally-commissioned rapid exome sequencing service for acutely unwell children. Children in neonatal or pediatric intensive care units or those with a likely monogenic disorder where a diagnosis was needed for immediate management decisions were eligible for this service. In its first year, 519 children were tested and a genetic diagnosis identified in 37% . With a focus on multidisciplinary team working, this service is a model of how translational medical research and close multidisciplinary working across the NHS can revolutionise patient care, improve patient outcomes and empower families by providing early diagnoses. Genetic disease is a leading contributor to infant and childhood mortality in hospital intensive care units (ICU).