Congenica, a clinical interpretation partner for the 100,000 Genomes Project, has announced the successful delivery of diagnostic reports to the NHS Genomic Medicine Centres.
Genomics England has been working closely with three companies over the past year to deliver genome interpretation at scale. Congenica, NextCode and Omicia were chosen in 2015 to work on the genomes of the first 8,000 patients participating in the 100,000 Genomes Project.
Genome interpretation software analyses a participant’s genome sequence to support clinicians in identifying the likely cause of someone’s rare disease.
Congenica’s genome analytics and interpretation software platform Sapientia™ went through a comprehensive and competitive evaluation process and proved to be able to deliver the state-of-the-art annotation, interpretation and reporting services required for the 100,000 Genomes Project.
Congenica has also achieved the security standard ISO 27001 accreditation, is compliant with the NHS Information Governance Toolkit (IGT), and has met all the requirements for organisations working with the NHS, processing patient data within its secure N3 network.
Congenica’s software Sapientia has now been deployed in the secure Genomics England datacentre.
Dr Damian Smedley, Director of Genomic Interpretation at Genomics England, said: “As the 100,000 Genomes Project picks up pace, with over 10,000 genomes now sequenced, it is essential that huge amounts of genomic data can be analysed accurately.
“We are now providing high quality genome interpretation to assist NHS clinicians and Congenica is helping us do that. Its Sapientia technology is in place to quickly analyse thousands of genomes and provide meaningful feedback for patients.”
Dr Tom Weaver, CEO of Congenica, said: “The 100,000 Genomes Project is a ground-breaking endeavour and has helped to drive the development of robust tools and a secure processing environment. We are delighted that Sapientia has been validated by Genomics England and we have a proven pathway in place to receive patient data and rapidly deliver the diagnostic reports.”
For people taking part and awaiting results, please see the Genomics England website for more information.
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%: