Even with the lightning-quick pace of the genomics field, it’s still amazing to veterans like us to see efforts on the scale of Genomics England’s 100,000 Genomes Project. This project, and others like it, truly fulfill the promise of next-generation sequencing that was set out more than a decade ago — but they also highlight the importance of analysis and interpretation for genomic data.
We’re excited to report that Ingenuity® Variant Analysis™ has been chosen for continued assessment to be an integral part of what’s known as the UK100K project. Scientists will have access to our powerful variant interpretation platform to rapidly identify and prioritize disease-causing genetic variants using advanced analytics.
Genomics England was set up by the UK Department of Health in 2013 to sequence 100,000 whole genomes by 2017. Funded with £300 million, the institution went on the hunt for technology partners to help it achieve this bold vision. Last year, Genomics England invited nearly 30 genomics companies like ours to submit information about their tools and services; this week, the group announced the 10 companies it will move forward with for further evaluation.
The project will focus on patients with cancer, rare diseases, and infectious diseases, which together affect a sizable fraction of the UK population. The primary goals are to help patients and establish clear consent guidelines while building a foundation for medical insights and a broader genomics industry in the UK.
In a public statement, Laura Furmanski, our Senior Vice President and Head of the Bioinformatics Business Area, said: “The UK100K project is a shining example of what is possible when many great institutions and technology innovators combine forces to advance the vision of personalized medicine.”
We look forward to working with the Genomics England team on critical analysis and interpretation steps to maximize its significant genome sequencing investment in the coming years.