Genomics plc, a leading analysis company developing an integrated platform to uncover the relationships between genetic variation and human disease, today announced that it has been appointed as Analysis Partner for the Genomics England Genomics Expert Network for Enterprises (GENE) Consortium.

Genomics plc will be analysing genomes at an unprecedented scale and, together with the Company’s existing knowledge base, be providing insights into human biology that will help to inform pharmaceutical R&D investment decisions.

Genomics England is delivering the UK 100,000 Genomes Project – whole genome sequencing rare disease and cancer patients in the National Health Service. Genomic information has huge potential to transform drug development pipelines, and one of Genomics England’s four main goals is ‘to enable new scientific discovery and medical insights’. To that end, in 2015, it set up the GENE consortium, which included major pharmaceutical companies such as Abbvie, AstraZeneca, Biogen, GSK, Roche, Takeda and UCB. With a focus on patients with rare diseases and cancers, over 13,000 genomes have already been sequenced and, within its secure IT infrastructure, de-identified data are being made available to Consortium participants to accelerate the development of new diagnostics and treatments for patients.

The power of genomic data to gain novel biological insights grows with both the scale of the data and the breadth of associated physical and biological information. Genomics England’s genetic information is increasingly linked to electronic medical records, a rich source of such phenotypic data, but one that adds many dimensions to the complexity of the analysis challenge.

Understanding and using such datasets to their full potential requires an in-depth understanding of genomics, sophisticated statistical analysis approaches, creative visual representations, computationally efficient algorithmic design, a dedicated IT infrastructure, and an expert team of scientists and IT engineers. Since its formation in early 2014, Genomics plc has been building a powerful platform combining these elements along with a database of genetic and linked phenotypic data on almost 3 million individuals that seamlessly integrates results from over 700 genetic studies across over 500 phenotypes, the largest dataset of its kind in the world. It is also collaborating with major pharmaceutical companies including Biogen, Eisai, Merck and Vertex, as it applies its integrated platform across all areas of pharmaceutical R&D, including target validation, assessment of on-target safety effects and discovery of repositioning opportunities.

Financial terms were not disclosed.

John Colenutt, CEO, Genomics plc, said: “We are excited to be working with Genomics England on the world-leading 100,000 Genomes Project. The use of human genetic data is increasingly recognised as a mechanism to transform productivity within the pharmaceutical and diagnostic research and development industry, and we look forward to working with the GENE Consortium, its members, and others within the sector to improve human health and reduce healthcare’s economic burden.”

Sir John Chisholm, Executive Chair, Genomics England, said: “The potential for genomics to transform healthcare, from better diagnoses to new drugs and treatments, is extraordinary, and we are delighted to work with Genomics plc, a proven leader in the field of genomic analysis, to maximise the value of the 100,000 Genomes Project for patients”.

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