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Congenica earns major role in supporting world’s first routine national genomic medicine service

Congenica earns major role in supporting world’s first routine national genomic medicine service

10/17/2018    |    0 min read

Genomics England names Congenica as its Clinical Decision Support Service partner for the delivery of the NHS Genomic Medicine Service

Cambridge, United Kingdom – 17 October, 2018 – Congenica has been awarded a multi-year contract by Genomics England, to be a provider of Diagnostic Decision Support Services for them to deliver for 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 the Congenica platform emerged as the clear leader.

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.”

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 Congenica platform. The service began mobilising in October 2018 and will continue to provide valuable clinical information to 100,000s of patients.

Congenica’s 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.”

Congenica has already been extensively validated on approximately 10,000 genomes during the 100,000 Genomes Project. During this time, Congenica’s clinical scientists used Congenica 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.”

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%: 

learn more about our partnership with Genomics england



Congenica will be exhibiting at its booth (#827) during the American Society of Human Genetics conference, to be held in San Diego from October 16-20.

Other activities include an Exhibitor Education Event “The Importance of an Early Diagnosis in Rare Disease” featuring speakers from Genomics England and the 100,000 Genomes Project (Wednesday 17th October, 12:30-13:45, Room 28C), and a poster presentation by Dr Andrea Haworth PhD. on “Whole Exome Sequencing Expedites the Diagnosis of Prenatal Phenotypes (using SapientiaTM).

About Congenica

Congenica is the provider of the diagnostic decision support platform, Sapientia, and associated clinical services, which enable clinicians to interrogate the human genome to identify disease-causing variants.

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. Congenica enables clinicians to progress through workflows more quickly, optimizing throughput of patients, number of patients diagnosed and reducing costs.

Headquartered in Cambridge, UK, and with a footprint in the US and China, Congenica is born out of pioneering research from the Wellcome Trust Sanger Institute and the NHS. Congenica is a partner for the pivotal Genomics England 100,000 Genomes Project.

For more information please visit us at www.congenica.com and follow us on Twitter at @Congenica and on LinkedIn

About Genomics England

Genomics England is a UK Department of Health and Social Care owned company, that was set up to deliver the 100,000 Genomes Project. The Project is the largest of its kind in the world, and aims to sequence 100,000 genomes from around 70,000 people with rare disease and cancer. Combining this with their health data will enable more diagnoses and improved personalised treatments for patients in the future.

For more information visit www.genomicsengland.co.uk and follow on Twitter at @GenomicsEngland