Congenica's key role for NHS in world's first routine DNA medicine service

Historic new genomic service has its heart in Cambridge

Congenica has been appointed to play a key role in the world’s first routine national genomic medicine service.

Genomics England named the Wellcome Genome Campus-based firm as its Clinical Decision Support Service partner for the delivery of the NHS Genomic Medicine Service, which is now available to the public.

Congenica, a finalist in the Cambridge Independent Science and Technology Awards next month, was given the role thanks to its diagnostic decision support platform, Sapientia, and associated clinical services, which enable clinicians to interrogate the human genome to identify disease-causing variants.

The complex selection process started with the 100,000 Genomes Project in 2013 – which is expected to be completed before the end of the year. During this process Congenica’s scientists validated Sapientia for clinical analysis and genomic interrogation which generates comprehensive, actionable clinical reports.

Genomics England then 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.

Professor John Mattick, chief executive of Genomics England, commented: “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.”

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.”

Congenica’s CEO, Dr David Atkins, also paid tribute to the achievement.

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

Chief scientific officer Nick Lench was also delighted with the outcome.

“Basically this is an extension of the work we’ve been doing in partnership with Genomics England for a number of years,” he said, “and this is the best contract possible. It’s absolutely fantastic for us, we probably beat off one or two big hitters from the States and to be the one from 27 companies in the first pilot is fantastic for us as a relatively small start-up.”

The service starts with the DNA sequencing (carried out at Hinxton); the DNA data is then fed into Genomics England, and from there Congenica provides the output in terms of recommendations and treatment options for the patient.

The data, once it arrives at Congenica, takes “one or two hours” to read and interpret. At this point it’s “key health workers diagnosing those with rare genetic diseases”.

“Best practice is to have real people involved before producing a diagnostic report,” concludes Dr Lench.