Genomics England has awarded a multiyear contract to Congenica, Cambridge, UK, to be a provider of diagnostic decision support services for the UK’s world-leading NHS genomic medicine service.

To make its award, Genomics England conducted a formal competitive tender process and evaluated leading providers of diagnostic decision support solutions for genomics. Features assessed included usability, clinical accuracy, case throughput, and commercial value. Congenica’s Sapientia platform emerged as the leader among the providers tested.

“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,” says John Mattick, PhD, chief executive of Genomics England. “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 a national genomic medicine service that will include a network of genomic laboratory hubs around the country to serve 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 mobilizing in October 2018 and will continue to provide valuable clinical information to hundreds of thousands of patients.

Atkins

David Atkins, PhD, Congenica.

“Genomics England and the NHS have done extraordinary work in building the foundations for the genomic medicine service,” says David Atkins, PhD, CEO of Congenica. ”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.”

According to the company, 80% of rare diseases are thought to have a genetic component, and patients wait an average of 4.7 years—and typically see 7.4 different clinical specialists—before getting a diagnosis. Sapientia enables clinicians to progress through workflows more quickly, optimizing throughput of patients, increasing the number of patients diagnosed, and reducing costs.

Sapientia has been extensively validated on approximately 10,000 genomes during the UK’s 100,000 Genomes Project. In the course of that project, Congenica’s clinical scientists have used Sapientia for clinical analysis and genomic interrogation, and 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 be completed before the end of 2018. Lessons from the project have enabled NHS to advance a service that will transform 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.

“The UK has always been at the forefront of genomic medicine, and the launch of the new NHS service further demonstrates this,” says Andy Richards, PhD, CBE, chairman of Congenica. “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.”

For further information, visit Congenica and Genomics England.

Featured image: Members of the Congenica team using the company’s Sapientia platform.