Congenica and GenomOncology Announce Collaborative Agreement at AMP

Congenica and GenomOncology announce a pilot collaboration that will support the commercialization of each other’s products in the USA and UK respectively and offer strategic partners a scalable data platform at AMP.

November 5, 2015

November 5, 2015 CAMBRIDGE UK and CLEVELAND USA – Congenica, leader in genomic interpretation and diagnostics in rare genetic disease, and GenomOncology, specialists in precision medicine technology in the field of oncology, are announcing a pilot collaboration that will support the commercialisation of each other’s products in the USA and UK respectively and offer strategic partners a scalable data platform. 

The announcement is being made at the annual meeting of the Association for Molecular Pathology in Austin, Texas, USA. 

Congenica’s Sapientia™ technology has been developed to enable clinicians to analyse and interpret whole genome data rapidly. It allows hospital consultants to make an accurate diagnosis of inherited and acquired genetic disorders by identifying gene mutations and highlight those that are associated with such disorders. The technology has been validated by Genomics England and adopted by NHS Genetics Centres. 

GenomOncology’s Precision Medicine Portfolio™ is a suite of products and services that addresses the full range of requirements for precision medicine in molecular pathology and medical genetics, particularly in the field of oncology. The Portfolio supports test validation and production, clinical decision support, and analytics for both monitoring and discovery. 

In the field of oncology, genotyping both cancer patients and tumours improves the identification of drug targets and increases the efficacy of treatment. Current drug treatments are only effective in 30-60% of such patients and this is driving the adoption of a personalised medicine strategy by healthcare providers. Where genotyping has been introduced for breast cancer patients, for example, it has proven to be successful; identifying which drugs will be the most effective, speeding up patient recovery and reducing the cost of ineffective drugs. 

Traditional methods of finding disease-related mutations, in both oncology and rare genetic conditions, involves several manual processes that can take weeks. Now, with Sapientia and Precision Medicine Portfolio technologies, those processes can be integrated in one place, reducing the time to provide results to a few hours. 

By analysing patients’ genetic and phenotype information together, the mutations that may be linked to disease are highlighted and can be linked to databases of knowledge containing details of previously seen variants, phenotype information and a wide range of literature sources. As more of this data is added to the Sapientia knowledge base, the accuracy in identifying the critical sequences increases. 

Congenica’s collaboration with GenomOncology will provide testing centres in both the UK and USA with a broader product suite covering both oncology and rare genetic diseases, as well as providing more data [to improve the accuracy and speed of diagnosis]. 

Manuel Glynias, President and CEO of GenomOncology, says: “With this agreement, we are addressing our clients’ needs in inherited disease interpretation and reporting while simultaneously extending our reach overseas.” 

“We are delighted to be working with the Congenica team, whose academic and professional reputations are second to none.”

Dr Thomas Weaver, CEO of Congenica, agrees: “Congenica’s collaboration with GenomOncology achieves an important milestone in our strategic plan by rolling out Sapientia into the hugely important US market. Both companies already have a number of clients who are attracted by the combined offering with its enhanced data model and we look forward to a fruitful partnership.” 



Congenica is a world leading developer of genome-based discovery and diagnostic technologies, and is a spinout from The Wellcome Trust Sanger Institute, supported by Amadeus Capital Partners and Cambridge Innovation Capital.

Congenica has developed Sapientia™ technology platform, which allows genome scale DNA sequence data to be presented within a clinically actionable diagnostic report. It is based on pioneering research from the Wellcome Trust Sanger Institute, NHS clinicians and regional genetic testing laboratories. This underlying technology has been validated by leading independent institutes and clinicians, including Genomics England Ltd, and has been adopted by NHS Genetics Centres.​

It was founded by six world leading geneticists and bioinformaticians in genomic sequencing, including Dr Richard Durbin who led the international 1,000 Genomes Project and the 10,000 Genomes Project, and Dr Matthew Hurles, Senior Group Leader at the Wellcome Trust Sanger Institute and a leader in the Deciphering Developmental Disorders (DDD) project.



GenomOncology is a healthcare technology company enabling precision medicine by transforming genomic data into actionable information. The GO Precision Medicine Portfolio™ is trusted by molecular pathologists and medical geneticists for streamlined development and production of knowledge- and guideline-driven cancer and hereditary disease tests. GenomOncology’s technology allows multiple modes of genetic analysis to fuel integrated clinical decision support and research built on accumulating experience. Learn more at