Congenica named as genomic analysis platform in ‘Impact of the 100,000 Genomes Pilot – Preliminary Report’ in the New England Journal of Medicine

11/11/2021 | 0 min read

Congenica has been an integral player in the UK’s 100,000 Genomes Project, acting as a key partner of Genomics England, supporting the initial pilot project, and subsequently being chosen as the exclusive clinical decision support platform and sole provider of genomic data analysis for rare disease cases in the UK Genomic Medicine Service, the world's first health system to provide whole genome sequencing to patients at a national level.

‘Impact of the 100,000 Genomes Pilot on rare disease diagnosis in healthcare – Preliminary Report’, published in the New England Journal of Medicine, outlines the findings of the recruitment, analysis and reporting of the initial participants who took part in the pilot study.

Andrea Haworth, FRCPath, Lead Clinical Scientist for Rare Disease at Congenica and one of the co-authors of the paper, has written a review of the publication.

The pilot study established the value of genome sequencing for unmet diagnostic needs across a range of rare diseases and provided the evidence base for development of the NHS National Genomic Test Directory, which catalogues the disorders that will receive genome sequencing as a first line test, and the new NHS Genomic Medicine Service, which will deliver the service to the population.

To maximize efficiency and avoid misdiagnosis in a healthcare context, an automated analytical pipeline was constructed using Congenica to rapidly enable the critical process of variant prioritization and interpretation of genomic data for NHS Genomic Medicine Centres to be able to produce a diagnostic report for each patient.

The UK 100,000 Genomes Project ended a long diagnostic odyssey for many patients. Whole Genome Sequencing (‘WGS’) combined with the Congenica platform resulted in a substantial increase in diagnoses across a broad spectrum of rare diseases, independent of whether participants had undergone previous genetic testing. For 25% of those who received a genetic diagnosis via this route, there was an immediate clinical utility.

This is the first project delivering clinical diagnoses from WGS and a clinical analysis platform in a national healthcare system at scale. As a result, over the next five years the UK will sequence 500,000 whole genomes in rare disease in healthcare, with WGS data interpreted exclusively by the Congenica decision support platform, providing equitable access to standardised genomic testing for 55 million people, saving patients and the NHS from lengthy and costly diagnostic odysseys.

David Atkins, Chief Executive Officer of Congenica, said: “It’s been a privilege for Congenica to be part of the UK 100,000 Genomes project and we are incredibly proud to have been the sole clinical decision support provider to be selected to partner with the NHS and Genomics England in the development of a national Genomic Medicine Service. Receiving a genomic diagnosis can be life-changing for patients and their families, enabling access to the support they need to make informed choices about their future. This pilot not only demonstrates the strong efficacy and efficiency of Congenica’s genomic analysis platform but, more broadly, the positive impact rapid and accurate genomic analysis can make to the lives of patients.”