Congenica, a global provider of clinical genomics interpretation software, has announced a new customer partnership with the Coimbra Paediatric Hospital (CPH), a leading paediatric hospital in Portugal and part of the Coimbra Hospital and University Centre (CHUC). Through this partnership, the hospital has licensed Congenica’s Sapientia software platform to perform analysis of whole-exome sequencing data and produce diagnostic reports for its In2Genome project. The €1.2 million (US$1.4 million) project funded by Portugal2020, Compete 2020, and European Structural and Investment, aims to revolutionise the diagnosis of rare genetic diseases through insights gained from population-wide genomic data.

Initiated by The Medical Genetics Unit of CHUC, which is housed in CPH, the In2Genome project is a multidisciplinary consortium collaborating with Portuguese companies Coimbra Genomics and Genoinseq by Biocant. The project, which commenced in July 2017, is expected to run for two years.

Sérgio B. Sousa, medical geneticist at CPH, said: "This is a unique and innovative project for the Portuguese national health system. We have chosen Sapientia due to its demonstrated speed and high accuracy in other diagnostic projects as well as the well-known UK 100K Genomes Project. One of the main aims of In2Genome will be to set up a whole-exome sequencing analysis service at our leading public hospital centre. Our first project is the study of a large cohort of patients with neurodevelopmental disorders, namely intellectual disability syndromes with the aim of developing faster precise diagnostics to better support patient’s health and lifestyle outcomes."

Sapientia is currently deployed at a number of clinical and research organizations as well as being used for the interpretation of rare disease in the 100,000 Genomes Project. As an end-to-end solution, the platform is designed to allow clinicians to upload data in a number of different formats, using existing bioinformatics pipelines or adopting publicly available ones, and then to filter and interpret the genetic variants associated with disease.

Shikha O’Brien, Congenica’s chief business officer stated: "Building rapidly on our global footprint, we are delighted to be working with CPH and CHUC, and to be part of an important national project in Portugal. The use of Sapientia in this clinical setting demonstrates the value of the platform, especially in diagnoses of paediatrics cases where speed and accuracy is of utmost importance."

Professor Jorge Saraiva, director of both CHUC’s Medical Genetics Unit and CPH, added: "This project is strategically important to us and an important milestone in clinical genetics. It was critical that we selected the best and clinically most experienced partner to ensure success. Congenica has gained a significant depth of know-how from its work with the UK NHS and Genomics England, which provides valuable experience to draw upon."