Congenica Selected by Genomics England to Provide Clinical Interpretation Services
News Jun 03, 2015
Tom Weaver, CEO of Cambridge-based Congenica says, “A robust, scalable solution is essential for the NHS. We will be performing whole genomic diagnosis for 2,500 patients, which is unprecedented and will take the technology to the next phase.”
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.
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.