Currently many children with rare genetic disorders caused by single gene mutations do not have a specific diagnosis. To help address this issue, Congenica – a spinout from the Wellcome Trust Sanger Institute – has been awarded £2m Phase 2 funding by the Small Business Research Initiative (SBRI).

This funding will be used to increase the rate and quality of gene mutation identification and improve the accuracy of gene-disease associations in order to create robust e-diagnostics for whole genome sequences.

Dr Tom Weaver, CEO of Congenica, a leading developer of DNA sequence analytics and diagnostic technologies, comments: “We welcome the SBRI Phase 2 award as it will not only fund further development and implementation of Sapientia, our diagnostics tool, but also provides a valuable endorsement of our technology. This will accelerate the process of embedding genomic medicine into mainstream clinical practice thereby providing benefits to patients and healthcare services.”

We welcome the SBRI Phase 2 award as it will not only fund further development and implementation of Sapientia, our diagnostics tool, but also provides a valuable endorsement of our technology.

 Dr Tom Weaver

The SapientiaTM technology is able to screen whole genome sequence data in order to identify gene mutations and highlight those that are associated with inherited and acquired genetic disorders. This information is interpreted to allow hospital consultants to make an improved diagnosis.

For families with young children affected by rare genetic disease, a diagnosis is critical for guiding management and therapy as well as enabling counselling and better informed reproductive choice.

Sapientia is built upon world leading technology developed by the Wellcome Trust Sanger Institute, including the work of Dr Matthew Hurles, co-founder of Congenica and scientific leader of the ‘Deciphering Developmental Disorders’ (DDD) study, the world’s largest, nationwide genome-wide rare disease sequencing programme.

Further validation of the technology underlying Sapientia comes from findings of the DDD research project, reported in Nature and the Lancet in December 2014. These studies showed that approximately one third of previously undiagnosed children could now be diagnosed.

Dr Matthew Hurles comments: “The study has shown that identifying and prioritising those variants that have a potential gene-disease association will significantly increase both speed and accuracy of diagnosis. The SBRI funding will enable us to fast-track the latest research into patient care.”

SBRI funding is designed to support the development of new commercial products to explore the diagnostic and therapeutic potential of genomics screening. The value to the UK economy was highlighted by Dr Robert Tansley of Cambridge Innovation Capital (CIC), an investment company established with the support of the University of Cambridge, Cambridge Enterprise and leading institutional investors to back innovation in the Cambridge cluster and a lead investor into Congenica.

He says: “Government funding through SBRI helps to de-risk technology for subsequent investment. Congenica’s technology has been independently validated by Genomics England and has the support of NHS clinicians. The NHS is internationally recognised for its rigorous approach and this provides confidence in the diagnostic tool for international markets.

“There is a huge worldwide market for Congenica’s technology, there are currently 200,000 genetic tests performed each year in the UK just for rare diseases,” he continues. “We see Sapientia as a powerful enabler that can realise the potential for a radically different type of genome analysis service. SBRI is supporting the development of a new ecosystem of related businesses.”

On 11 March 2015, Genomics England announced the successful companies in its Small Business Research Initiative (SBRI) Phase Two assessment of Enabling Technologies for Genomics Sequence Data Analysis and Interpretation.

Professor Tim Hubbard, Head of Genome Analysis at Genomics England commented, “For widespread use of genome sequencing in routine health care the development of accurate and reliable interpretation software is critical. We are encouraged to see new and existing companies developing products and services in this space; building on UK academic research, in part stimulated though the existence of the Genomics England, the 100,000 Genomes Project, and this competition. We believe that there is now a critical mass of medical bioinformatics translational activity in the UK that puts the UK in a good position to be a leader in the global market for genomic analysis services”.

Photo credit: DNA lab by University of Michigan School of Natural Resources & Environment via Flickr