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, 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.”
Media enquiries for Congenica
Rachel Holdsworth/Anna Masefield, Holdsworth Associates PR
+44 1954 202789 or email: anna.masefield@holdsworth-associates.co.uk
Notes for Editors follow
About Congenica
www.congenica.com
Congenica, is a world leading developer of genome-based discovery and diagnostic technologies.
Congenica is a spin-out from The Wellcome Trust Sanger Institute. It was founded by six world leading geneticists and bioinformaticians in genomic sequencing, including Dr Richard Durbin who led the international 1000 Genomes Project and the UK10K Genome Project and Dr Matthew Hurles Senior Group Leader at the Wellcome Trust Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) project.
Congenica has developed SapientiaTM technology platform, which allows genome scale DNA sequence data to be presented within a clinically actionable diagnostic report. It is based on pioneering research from the Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories.
This underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd.
About Genomics England
Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients by 2017.
Genomics England has four main aims:
• To bring benefit to patients
• to create an ethical and transparent programme based on consent
• to enable new scientific discovery and medical insights
• to kick-start the development of a UK genomics industry
Help employers find you! Check out all the jobs and post your resume.
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, 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.”
Media enquiries for Congenica
Rachel Holdsworth/Anna Masefield, Holdsworth Associates PR
+44 1954 202789 or email: anna.masefield@holdsworth-associates.co.uk
Notes for Editors follow
About Congenica
www.congenica.com
Congenica, is a world leading developer of genome-based discovery and diagnostic technologies.
Congenica is a spin-out from The Wellcome Trust Sanger Institute. It was founded by six world leading geneticists and bioinformaticians in genomic sequencing, including Dr Richard Durbin who led the international 1000 Genomes Project and the UK10K Genome Project and Dr Matthew Hurles Senior Group Leader at the Wellcome Trust Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) project.
Congenica has developed SapientiaTM technology platform, which allows genome scale DNA sequence data to be presented within a clinically actionable diagnostic report. It is based on pioneering research from the Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories.
This underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd.
About Genomics England
Genomics England is a company owned by the Department of Health and was set up to deliver the 100,000 Genomes Project. This flagship project will sequence 100,000 whole genomes from NHS patients by 2017.
Genomics England has four main aims:
• To bring benefit to patients
• to create an ethical and transparent programme based on consent
• to enable new scientific discovery and medical insights
• to kick-start the development of a UK genomics industry
Help employers find you! Check out all the jobs and post your resume.
