--- title: Genomics England selects Congenica to provide clinical interpretation services description: Genomics England selects Congenica to provide clinical interpretation services image: https://blog.congenica.com/hubfs/richard-durbin.png --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [Genomics England selects Congenica to provide clinical interpretation services](https://blog.congenica.com/2015/06/03/congenica-selected-by-genomics-england-to-provide-clinical-interpretation-services) ![Genomics England selects Congenica to provide clinical interpretation services](https://blog.congenica.com/hubfs/richard-durbin.png) News # Genomics England selects Congenica to provide clinical interpretation services 6/3/2015    |    0 min read ![](https://blog.congenica.com/hubfs/Imported_Blog_Media/Durbin-feat-3-1024x373.jpg) Congenica has been named by Genomics England as a platform provider for its 100,000 Genomes Project, which is now moving into Phase 3.  This phase will see diagnosis based on whole genome sequencing adopted within the NHS and a reclassification of rare diseases based on an improved understanding of genomics. 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. 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.”   Download our case study to learn how Congenica has helped Genomics England to reduce manual data processing by 95%, improve analysis times 20-fold and increase diagnostic yield by 50%: [![learn more about our partnership with Genomics england](https://no-cache.hubspot.com/cta/default/6863388/736e7cf3-7580-423b-acb6-2d643da97847.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/736e7cf3-7580-423b-acb6-2d643da97847) --- ### Related articles ![SeqOne acquires Congenica to create a global leader in AI-powered genomic medicine](https://blog.congenica.com/hs-fs/hubfs/New%20logos/Congenica%20%26%20SeqOne%20Logo%20Without%20Tagline%20RGB.png?width=320&height=192&name=Congenica%20%26%20SeqOne%20Logo%20Without%20Tagline%20RGB.png) 9/2/2025 #### [SeqOne acquires Congenica to create a global leader in AI-powered genomic medicine](https://blog.congenica.com/seqone-acquires-congenica-to-create-a-global-leader-in-ai-powered-genomic-medicine) Strategic acquisition of UK genomics leader Congenica reinforces SeqOne market position and footprint - servicing over 160 labs in 30+ countries ![Congenica showcased in Genomics Spotlight 2024 Report](https://blog.congenica.com/hs-fs/hubfs/male%20doc%20with%20child%20and%20mum%20light%20small%20.jpg?width=320&height=192&name=male%20doc%20with%20child%20and%20mum%20light%20small%20.jpg) 11/6/2024 #### [Congenica showcased in Genomics Spotlight 2024 Report](https://blog.congenica.com/congenica-showcased-in-recently-launched-genomics-spotlight-2024-report) We are thrilled to announce that Congenica is one of the companies showcased in the recently launched Genomics Spotlight 2024 report produced by the UK Department for Business and Trade (DBT). ![Congenica Named Best Genomic Data Analysis Software Company 2024 by GHP](https://blog.congenica.com/hs-fs/hubfs/Onco%20.png?width=320&height=192&name=Onco%20.png) 6/19/2024 #### [Congenica Named Best Genomic Data Analysis Software Company 2024 by GHP](https://blog.congenica.com/congenica-named-best-genomic-data-analysis-software-company-2024-by-ghp) We are thrilled to announce that Congenica has been awarded the title of "Best Genomic Data Analysis Software Company 2024" by Global Health & Pharma Magazine.  ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. 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