Congenica, a global provider of clinical genomics interpretation software, today 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 ($1.4 million) project funded by Portugal2020, Compete 2020, and European Structural and Investment, aims to revolutionize 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, MD, PhD, 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."

About Coimbra Paediatric Hospital and Coimbra Hospital and University Centre
Coimbra Paediatric Hospital (CPH) is part of the Coimbra Hospital and University Centre (CHUC), the largest hospital centre in Portugal. Known for its integrated research, teaching and patient care approach, and founded within one of the oldest universities in the world, CPH provides a range of specialist paediatric services to local, national and international patients and will commemorate its 40th anniversary this year. Since its formation, the hospital has been dedicated to comprehensive children’s healthcare, aiming to provide world-class clinical care and professional training whilst pioneering new research and treatments in partnership with others for the benefit of children worldwide.

CHUC’s Medical Genetics Unit is the largest clinical genetics department in the country, attending to both child and adult populations, and is deeply committed to improving genetics at the national level and within international networks. It is the only Iberian member of the European Reference Network (ERN) on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA) and of the ERN on Rare Bone Disorders (ERN-BOND). For further inquiries contact: Sérgio B. Sousa, sbsousa@chuc.min-saude.pt. 

About Coimbra Genomics
Coimbra Genomics, S.A. is a Digital Health and Precision Medicine start-up, headquartered in Cantanhede, Portugal. Coimbra Genomics has developed and is commercializing ELSIE, a first-in-class digital platform that allows physicians of any speciality to use information on their patient’s genome during regular medical appointments in an easy, fast and secure way, to make individualized decisions about diagnosis or prognosis. Coimbra Genomics has been voted one of the Top 3 Promises in Europe in the field of Digital Health.  For further inquiries, please contact: Sónia Martins, info@coimbra-genomics.com. 

About Genoinseq by Biocant
Genoinseq is the Next Generation Sequencing Unit of Biocant, at Cantanhede, Portugal. This unit grants access to the full potential of next generation sequencing equipment and bioinformatics data analysis for delivery of personalized solutions. In operation since 2007, Genoinseq provides services to companies and research groups in the field of Life Sciences and collaborates in R&D projects. For further inquiries, please contact: Conceição Egas, genoinseq@biocant.pt. 

About Congenica
Congenica is a leading provider of clinical decision support software and services, which has developed the gold-standard platform, Sapientia, for analysis, interpretation and generation of clinically actionable reports on patient derived genomic data. Headquartered at the Welcome Genome Campus, Cambridge, U.K., Sapientia’s underlying technology was spun out of the pioneering research from the Sanger Institute and the platform continues to evolve through well-renowned scientific staff and advisors. Congenica aims to integrate genomics into healthcare by providing clinical genome analytics to support medical practitioners treating patients with genetic diseases, and thereby improving human health and personalised patient care. The company is at the forefront of partnering with leading clinical research and healthcare providers, charities and patient advocacy groups, pharmaceutical and diagnostic companies, and new medical paradigms in orphan diseases.