Genomics-based diagnosis offers patients with rare diseases the opportunity for faster access to appropriate treatment and saves the NHS money by reducing the need for multiple tests and consultant appointments. Congenica’s role in developing this approach to diagnosis has been recognised by the life sciences industry in the prestigious OBN Awards.
Congenica was given the accolade of ‘Best Implementation of Digital Healthcare’ for introducing its Sapientia platform into the NHS.
Sapientia, the digital platform developed by Congenica to support genetic diagnosis, has been adopted by pioneering Genomics Centres across the NHS. The company is also a clinical interpretation partner in the ground-breaking 100,000 Genomes Project.
Sapientia enables clinicians to provide fast and accurate clinical diagnosis by identifying gene mutations that are associated with rare genetic diseases.
Some inherited disorders are so rare that a health professional may only see one or two cases in their professional lifetime, resulting in more effort and time to reach a diagnosis.
Sapientia allows clinicians to input data about a patient’s clinical symptoms (phenotype) and links this to gene mutations. By incorporating multiple international databases and published literature together in a single user interface, clinicians benefit from prior diagnostic annotations by other clinical experts. This speeds up patient diagnosis and improves quality of information available to clinicians and ultimately patients.
The technology is also being used by clinical researchers, pharmaceutical and biotech companies to identify the role of gene mutations in genetic disease. Drug targets with defined genetics have twice the chance of reaching the clinic.
Congenica CEO Dr Tom Weaver says: “We are delighted to receive this endorsement from the industry. We have worked very closely with NHS clinicians to bring Sapientia into routine clinical use and this award recognises the efforts of all those involved.
“The NHS is one of the finest healthcare systems in the world and we are proud to pursue an approach of ‘NHS validated, internationally adopted’ to take Sapientia to the global market.”
OBN is the not-for-profit Membership organisation supporting and bringing together the UK’s innovative life sciences companies, corporate partners and investors. The awards were announced at a dinner on 6th October 2016.
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