Clinical Exome Pilot study

The Clinical Exome Pilot is a joint initiative between University Hospital Southampton NHS Foundation Trust , Salisbury NHS Foundation Trust and the University of Southampton to create a diagnostic test for all genes associated with diseases.

All in one test

Currently patients being tested for an inherited disease often go through a series of separate tests for each possible genetic change, a time-consuming and costly process. The clinical exome study aims to combine these into a single test to investigate a wide range of conditions with a known genetic factor.

Having a single test will greatly reduce the cost to the NHS and the time it takes to reach a diagnosis. The new method will also make  testing for extremely rare conditions financially and practically viable.

Hosting researchers at WISH

By hosting Salisbury's researchers the WISH lab enables them to conduct their research in a clinical setting, analysing samples from patients at the hospital in idsutry-standard facilities. As a hosted team, they have dedicated office space, direct access to our next generation sequencing machines and the lab space they require.  

The study is analysing 4800 disease-associated genes - the clinical exome – in blood samples from 500 patients. Using next generation sequencing combined with intensive computational analysis, they can sift through the results to identify disease-causing variations in the genes.

The Salisbury group specialise in analysing disease causing genes, and their knowledge and expertise is essential to the project. As well as working on the clinical exome project, being based at the WISH lab has enabled them to collaborate with Southampton researchers on a number of other projects.

“Working in the WISH lab on the Clinical Exome Pilot has been a really positive experience. The lab is modern and well equipped and the interactions are diverse and enthusiastic. With a growing range of initiatives from both clinical and research there is a real buzz about the burgeoning Genomics community.” Chris Mattocks, Salisbury NHS Foundation Trust.