The ‘Exeter Exome team’ developed the diagnostic technique

South West Genomics Laboratory Hub team given ‘Excellence in Healthcare Delivery’ award by Chief Scientific Officer

A team at the South West Genomics Laboratory Hub has received national recognition from the NHS Chief Scientific Officer (CSO) for developing a diagnostic service that enables rapid identification of rare genetic diseases in acutely unwell children.  

Based at the Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust (RD&E), they received the “Excellence in Healthcare Delivery” award from CSO Professor Dame Sue Hill at the 2020 Healthcare science awards on Wednesday 12 May 2021.  

The ‘Exeter Exome team’ established by Professor Sian Ellard (Clinical Scientist and Professor of Genomic Medicine, University of Exeter), developed a diagnostic technique that can analyse children’s DNA and identify rare genetic disorders much quicker than was previously possible. They investigate approximately five thousand rare genetic disorders in a single test and report results in around 10 days. To date, over 900 children from across England have been referred and a genetic diagnosis found in 37%. 

Commissioned by NHS England and NHS Improvement, the service is at the forefront of the new Paediatric and Neonatal Intensive Care rapid exome sequencing service for acutely unwell babies and children. The team includes clinical scientists, technologists, administrators and a clinical geneticist. 

Karen Stals, Clinical Scientist Service Lead for the exome team within the laboratory says: “We are extremely pleased to have been recognised with this award, but we are most proud that the work we do is having a real impact helping children up and down the country to receive the best medical care possible.”  

“This is a great example of how translational medical research and close multidisciplinary working across the NHS can improve patient care” commented Andrew Parrish, Exeter Genomics Laboratory Lead. 

In judging the award the judges looked for healthcare scientists who have undertaken ground-breaking translational scientific work and established strong collaborations for innovation and enterprise to make a real difference in patient care.  “Very often there is little clue why these children are so sick, many are thought likely to have a rare genetic disorder and a prompt diagnosis can profoundly impact their clinical care.” Said event host Vivienne Parry OBE, Head of Engagement, Genomics England who described the service as “world leading”.

Date: 21 May 2021