Translation of Whole Genome Sequencing into Clinical Practice

This study explores whether whole genome sequencing (WGS) technology could be an effective and cost-effective way to improve diagnostic speed and accuracy in a wide range of conditions such as inherited diseases, cancer and immunological disorders, leading to improvements in patient outcomes. For Mendelian disorders, referrals will primarily be from clinical genetics and will encompass a broad range of paediatric and developmental conditions, including epilepsies, brain malformations, ataxias and dysmorphisms.  In addition, patients with inherited disease will be referred via other routes, including those with cardiovascular disease. 

The health economic component will cost the WGS process compared to the traditional famous Sanger sequencing, then review the first 50 cases of Mendelian conditions referred for WGS to the Oxford NHS Molecular laboratory.  In order to compare WGS with standard care we will produce diagnostic scenario pathways with clinicians. The costs of all diagnostic investigations undertaken for these cases prior to WGS will be established and the cost difference between using and not using WGS will be determined.  A sensitivity analysis will be performed to identify which costs are likely to have the largest impact on the cost-effectiveness of WGS if certain factors change, such as any platform changes. A discrete choice experiment will be used to explore patient attitudes towards using WGS for their care.