Congenica Rare Disease
The impact of rare diseases
Congenica is an absolute game changer, enabling us to be certain about our analysis.
Dr Tessa Homfray Consultant in Medical Genetics, NHS
Rare diseases and genomics
Congenica’s combination of flexible workflows and data visualisation tools have helped provide a diagnosis where other approaches have failed - all within a 20-day diagnostic window. This is a powerful tool that has helped a family bring eight years of turmoil to a close.
Professor Sahar Mansour Consultant Clinical Geneticist and Physician, St George’s University Hospitals NHS Foundation Trust
Maximise workflow and increase diagnostic yield with confidence
Rapid turnaround time
Automated processes for fast and accurate decision-making supported by machine learning and AI
High diagnostic yield
Increased diagnostic yield through automated variant prioritisation and expertly curated reference databases
Validated, accurate and secure platform for high confidence in diagnostic outcome
From gene panels to whole genomes, SaaS or on premise, we offer ultimate flexibility to support all customer needs
By utilising Congenica we increased our diagnostic yield and delivered a molecular diagnosis to patients who would not have received one using our standard bioinformatic pipeline.
Dr Katherine Benson Postdoctoral Researcher, Royal College of Surgeons Ireland (RCSI)
Delivering results at scale
Genomics England has been successful in delivering the groundbreaking 100,000 Genomes Project and establishing the world’s first national health service to offer whole genome sequencing. As partner to Genomics England and the exclusive Clinicial Decision Support partner for the NHS Genomic Medicine Service, we have adapted our platform to drive the analysis of whole genomes at national scale.
Congenica has been able to process a huge number of samples for the 100,000 Genomes Project and routinely process thousands of samples for Genomics England every month. Working with Congenica we’ve been able to provide high quality variant interpretation of genome sequences to the NHS, helping deliver benefits to patients at scale.
Dr Augusto Rendon Director of Bioinformatics of Genomics England