Congenica’s SapientiaTM diagnostic platform is being used within the 100K Genome Project for Clinical Interpretation. It identifies the single-gene mutations that are associated with diseases and provides this information in a format that can easily be interpreted by a hospital consultant.
In the last three years there has been an exponential growth in genetic knowledge and this has seen the identification of nearly 30 new disease genes a month, creating a major challenge for NHS diagnostic services. At present testing for over 600 disorders is available within the NHS, but this represents only a quarter of the known disease genes and these tests are performed step-wise. The introduction of whole genome sequencing has the potential to improve the quality and speed of diagnosis and reduce the cost.

The 100k Genomics Project is studying rare diseases to provide proof of concept for an NHS-wide genomic data platform. Over 85% of rare diseases are caused by a single-gene defect so there is a clear association between a single-gene defect and its expression in disease symptoms or ‘phenotype’. This makes it easier to validate the system.

Sapientia is based on the pioneering work of Dr Matt Hurles and Dr Richard Durbin, both Senior Group Leaders Genomics at the Wellcome Trust Sanger Institute and co-founders of Congenica.
Dr Durbin developed techniques to identify, annotate and interpret whole genome DNA sequence data while working on the 1000 Genomes, he says this next stage is vital to develop the reference database: “Not all gene mutations cause disease so patient data is vital to identify which are critical. With access to more data we will be able to improve diagnoses for patients.

The Genomic England project aims to establish a platform for the application of high-throughput genomics in routine NHS practice. It aims to sequence 100,000 whole genomes from NHS patients by 2017. The project is focusing on patients with rare diseases, and their families, as well as patients with common cancers

Nick Lench, Chief Operating Officer at Congenica, comments: “Genomics England has a rigorous tendering process and we were awarded the contract against stiff competition, this is a further validation of our approach and shows the increasing interest and acceptance of Sapientia by the NHS. Over the course of the project our platform will be used both for patient diagnosis and by experts in the field (GeCIPS) to facilitate new gene discovery.”