Genomics England was founded in 2013 to realize the bold vision of unlocking the power of genomic data to deliver better diagnostic tests, better treatments and enable clinicians to provide more personalized care to save lives.

The first step towards that vision was the 100,000 Genomes Project, which saw the organization sequence over 100,000 genomes from over 97,000 patients and their family members.

It is estimated that 1 in 17 people are either born with or develop a rare disease at some point in their lifetime and 70-80% of these have a genetic cause. However, it can take considerable time and expense between a patient first presenting at a doctor’s surgery and them receiving an accurate diagnosis. Even in countries with advanced healthcare systems, this diagnostic odyssey can take 6+ years.

Delivering a Diagnosis in a Matter of Days

The 100,000 Genomes Project, however, opened the possibility for this diagnostic odyssey to be shortened to a matter of few days.

Following their successes in the 100,000 Genomes Project, the UK government initiated the implementation of the NHS Genomic Medicine Service. The aim of the GMS is to embed genomics into the wider healthcare service to support clinical decision making across England.

However, to expand the service to a national level, a robust and scalable decision support platform would be needed to reduce the manual interpretation time required to process data and deliver actionable reports to physicians.

Following a rigorous evaluation by an independent panel of experts, Congenica was selected as the exclusive clinical decision support provider for the Genomic Medicine Service.

Leading genomic data analysis solution providers were challenged to identify the causal variants in patients affected by rare diseases. Of the 16 reports Genomics England received, only four companies were able to solve all of the cases.

The final stage of the selection process involved the testing of each solution against a robust set of criteria that included scalability, usability, clinical accuracy, case throughput and commercial value.

What makes Congenica the platform of choice for genomic analysis?

Usability and scalability

The Congenica clinical decision support platform rapidly transforms whole genome, whole exome and gene panel data into actionable information, enabling clinicians to improve diagnostic yield and case throughput, maximize workflow efficiency and increase confidence in diagnoses.

It also enables clinicians and clinical scientists to dive deeper into variant analysis and significantly increase their case throughput at a national level.

Genomic testing in the NHS is being provided through a single national testing network which will be delivered through seven Genomic Laboratory Hubs (GLHs), each responsible for coordinating services for a particular part of the country. Seamless and immediate delivery of the Congenica platform to the national  Genomic Laboratory Hubs enables rapid variant interpretation and clinical reporting, all within one solution.

Clinical accuracy

During the 100,000 Genomes Project, Congenica identified additional variants that had previously been undetected, helping to increase the diagnostic yield of patients by 50%. In total, one third of patient diagnoses involved variants outside of Genomics England’s initial selection of candidate variants.

Case throughput and commercial value

The Genomic Laboratory Hubs in the UK are required to report patient results within six weeks to meet contracted turnaround times. Using Congenica’s scalable processing pipeline enables them to process 385+ samples every 24-hours – an unprecedented 2,700 whole genomes per week.

Analysis of more than 2,000 complex cases from the 100,000 Genomes Project shows that the Congenica platform enables analyses to be conducted twenty times faster while reducing the amount of manual processing time by 95%.

These programs don’t just provide scientific data, they provide hope

Congenica is a key component of Genomics England which successfully delivered the 100,000 Genomes Project – sequencing an unprecedented 100,000 whole genomes in just 5 years – while helping to increase their diagnostic yields by 50 % and improving analysis times by a factor of 20. Congenica is enabling this national program to process over 2,700 whole genomes per week.

The ability of programs such as the 100,000 Genomes Project to identify the genomic cause for a disease can have a profound effect on the patient and their family. It brings an end to the diagnostic odyssey and, even where there may be no treatment available, can be essential for psychological wellbeing. A genomic diagnosis may also inform on family planning and general care, where having a name for a disease can facilitate access to services and may help inform how a patient will respond to specific treatments. Finally, as we enter the era of genomic medicine, more and more therapies are likely to become available that are targeted against the specific causative variant in the patient, giving hope to those who have rare genomic disorders.

To find out more, download our case study “From Data to Diagnosis - Delivering Results on a National Scale with Genomics England”:

Download our Genomics England case study


[1] Global NGS Informatics and Clinical Genomics Market - Analysis and Forecast, 2018-2028 BIS