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17 October, 2018 - 11:31 By Tony Quested

Congenica on top of the world as it helps deliver new genomics services

Congenica in Cambridge has won a global beauty contest to be awarded a multi-year contract by Genomics England to provide diagnostic decision support services to the world-leading NHS Genomic Medicine Service.

Genomics England carried out a rigorous evaluation of all the leading providers of diagnostic decision support solutions for genomics from across the globe during a formal competitive tender process. 

Features including usability, clinical accuracy, case throughput and commercial value were all tested and Congenica’s platform SapientiaTM emerged as the clear leader.

Professor John Mattick (pictured), chief executive of Genomics England, said: “By working with Congenica from the start of the 100,000 Genomes Project, we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale. 

“Now that we are embarking on the next exciting step in our journey to embed genomic medicine in healthcare, Congenica will continue to play an important role with Genomics England in delivering results to clinicians and diagnoses to patients.”

The NHS is establishing the national Genomic Medicine Service inclusive of a network of Genomic Laboratory Hubs around the country serving patients with a wide variety of needs. 

Initially, patients who suffer with rare and inherited diseases and cancer will be able to access genomic testing – an area of focus for the Sapientia platform. The service began mobilising this month and will continue to provide valuable clinical information to 100,000s of patients.

Congenica CEO, Dr David Atkins said: “Genomics England and the NHS have done extraordinary work in building the foundations for the Genomic Medicine Service. 

“We feel privileged to continue to be part of this initiative and to be a contributor to the world’s first service of this kind. While we have many other customers who have subjected us to rigorous evaluation, we are particularly proud to have beaten a very competitive field in this competition.”

Sapientia has already been extensively validated on approximately 10,000 genomes during the 100,000 Genomes Project. During this time, Congenica’s clinical scientists used Sapientia for clinical analysis and genomic interrogation, to generate comprehensive, actionable clinical reports.

Genomics England was established by the UK Department of Health and Social Care to deliver the 100,000 Genomes Project, which is expected to complete before the end of 2018. 

The learnings from this project have enabled the NHS to advance a  service which transforms the way that people are cared for in the UK, bringing genomics to the clinic and improving the quality and efficiency of the healthcare system.

Dr Andy Richards, Congenica’s chairman, said: “The UK has always been at the forefront of genomic medicine and the launch of the new NHS service further demonstrates this. The experience that Congenica has gained in working alongside the NHS and Genomics England to achieve this, puts us in a strong position to expand globally and integrate genomics effectively into other international healthcare systems.”

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