The diagnosis of a rare disease can be a difficult process that can take several years due to lack of scientific knowledge and quality information. In fact, patients with rare diseases visit an average of 7.3 physicians before receiving an accurate diagnosis. There are over 7,000 different types of rare diseases and disorders, with more being discovered every day, affecting more than 10% of the population. Over 80% of rare diseases are of genetic origin, and although as much as 95% of these have no approved drug treatment, a quick and accurate diagnosis is important to better manage symptoms and improve quality of life.
The Cambridge, UK-based startup Congenica has developed a pioneering clinical genomics analytics platform, called Sapientia. The platform, a genetic interpretation software, screen whole genome sequence data to identify gene mutations and highlight those that are associated with inherited and acquired genetic disorders, enabling clinicians to provide a fast and accurate clinical diagnosis. And as a clinician identifies a mutation associated with a disease or disorders, this information is stored within the Sapientia software along with the clinician’s expert opinions, helping other clinicians when diagnosing their own patients with similar conditions. This creates a powerful virtuous circle: the more information is collected, the more likely a faster diagnosis for future patients.
Whole genome analysis has the potential to transform diagnosis of rare genetic diseases, but until now, the volume and complexity of the data and the lack of sophisticated tools to analyze and interpret the information have limited its role in the clinic. Congenica, and their powerful Sapientia software addresses this problem, and is able to identify, interpret, and pinpoint a single gene change that is responsible for a patient’s disease. The innovative technology will revolutionize how we diagnose rare diseases, and 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, which may take only minutes rather than years, in addition to improving quality of information available both to clinicians and patients. It will also provide new insights for future screening and treatment of all genetic diseases, advancing our understanding of rare disorders and improve the performance of therapeutic research and development.
Congenica is a spin-out from the Wellcome Trust Sanger Institute, and was earlier in 2016 selected as one of Europe’s top 25 digital health companies at the Healthtech Summit in Lausanne. The startup has previously raised over £3 million from Cambridge Innovation Capital and Amadeus Capital Partners, in addition to being awarded £300,000 from Innovate UK. They recently won the ‘Best Implementation of Digital Healthcare’ at the OBN Awards, as well as the NHS Innovation Competition, organized by the NHS Innovation Hub Health Enterprise East.