Dr Tom Weaver, Congenica CEO

Congenica aims to provide clinical genome analytics and clinical decision support for genetic diseases.

By Anna Masefield - 15 October 2014

Cambridge based Congenica Ltd, a genome diagnostics and discovery company, has announced that it has been selected by Genomics England, the company heading up the UK’s 100k Genomes Project, as one of the winners of a whole genome annotation assessment.

Tom Weaver, Congenica’s CEO, said:  “Genomics England is leading the world in genomics research so this validation against other technologies and service providers gives enormous credibility to our tools.”

The UK 100k Genomes Project aims to revolutionise medicine by unlocking the secrets of DNA from 100,000 genomes over four years to aid in the use of disruptive genome technology, greatly enhancing a doctor’s ability to diagnose cancer and rare genetic diseases (which together affect roughly 6% of the UK’s population).

Professor Phil Beales, Professor of Medical and Molecular Genetics at UCL, Honorary Consultant in Clinical Genetics, Great Ormond Street Hospital, and Clinical Director of Congenica, said "With the UK's drive to introduce genomic medicine into healthcare, Congenica is committed to enable the right patients to receive the right diagnosis and treatment at the right time.”

Crucial to the success of this project is genome annotation, the process of describing and adding meaning to variants found in a sequenced genome. This process allows doctors to concentrate on the important genetic differences and ignore non-functional changes. Until recently genome annotation has needed to be done manually, but the genomics community is developing tools to automate the process. The Genomics England project was created with the aim of encouraging innovation in genomic interpretation.

Congenica applied its SAPIENTIATM platform to identify, annotate and interpret whole genome DNA sequence data from patients with rare genetic disease. By using this unique clinical decision support tool, the company was successful in filtering through the millions of genetic changes present in each patient’s complete DNA makeup and definitively identifying the single genetic change responsible for the patient’s disease. Once this stage is successfully completed, Congenica has been selected by Genomics England as a potential service provider for the next stage of its project.

This independent validation is an important milestone for Congenica, as Tom Weaver continues; “Moving to the next stage of the evaluation also offers a significant opportunity for Congenica in partnership with Genomics England to scale our technology within the UK National Health Service.  We believe that creating a scalable diagnostics platform for genetic analysis has the potential to revolutionise the way clinical diagnostic testing is performed in the future. We are excited about applying this for the benefit of patients in the NHS and on a global basis through international partnerships.”

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