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 already proven speed and high accuracy in other projects like the 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 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 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, partners 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 global provider of clinical genetics software and services. Headquartered in Cambridge UK, the company was founded on pioneering research from the Sanger Institute based at the Wellcome Genome Campus. We help clinicians and scientists rapidly and accurately diagnose patients with inherited genetic diseases with our clinical genomic analytics platform, Sapientia®. The platform provides a secure cloud-based software which enables analysis and interpretation of genetic data, linked to a patients’ phenotype which helps clinicians and scientists rapidly and accurately diagnose patients with inherited genetic diseases, accelerating access to the best treatment and prevention strategies. Sapientia is used by hospitals, clinics, research institutions and consortia, biotech, and pharma worldwide including Genomics England and leading genetic diagnosis centres in the National Health Service (NHS).
 

About Sapientia™

Sapientia is a clinical genome analysis software platform that analyzes genome-scale DNA data to produce a comprehensive diagnostic report that can be linked to patients’ symptoms, supporting clinical decision-making about rare genetic disease. The platform is based on pioneering research from the UK’s Wellcome Trust Sanger Institute, NHS clinicians, and its underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd. Sapientia is also being used in the advancement of personalised medicine by the global pharmaceutical industry to create disease registries, identify patient populations for clinical studies, and support the discovery of novel drug targets and biomarkers.