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 in order to facilitate the adoption of disruptive genome technology transforming a doctor’s ability to diagnose cancer and rare genetic disease which collectively affects 6% of the general 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, emphasized "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.”
Genome annotation, the process of describing and adding meaning to variants found in a sequenced genome, is vital to the success of this project, as it allows doctors to focus on the genetic differences that matter and ignore non-functional changes.
Until recently this process has been done manually but increasingly the genomics community is developing tools to automate the process. The Genomics England project was designed to stimulate 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.
Applying 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 unambiguously identifying the single genetic change responsible for the patient’s disease.
Following the successful completion of the task 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.
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.”