A new research ‘Innovation Hub’ has been launched at Cambridge University Hospitals to help researchers treating common and rare diseases in children.
It took ten years for the very first Whole Genome Sequencing test to reach completion. That was in 2003. These days tests are far quicker but can still take weeks to deliver a diagnosis in the NHS.
However, a new research ‘Innovation Hub’ launched at Cambridge University Hospitals (CUH) is opening up opportunities to find answers for sick children far more quickly, maybe within just 24 hours.
The hub, which launched in September, is a collaboration with Illumina, East of England East Genomic Laboratory Hub (GLH), the University of Cambridge, CUH and supported by NIHR Cambridge BRC.
Based in the Department of Paediatrics at Cambridge University Hospitals, the facility brings together Illumina and East Genomic Laboratory Hub, which provides genetic diagnosis for the NHS. Researchers treating common and rare diseases in children have pre-commercial access to help test new software and state-of the-art sequencing technology, including rapid whole-genome sequencing (WGS).
When Cambridge Children’s Hospital opens, the hub aims to relocate to the new Genomics Centre, one of six research centres within the Cambridge Children’s Research Institute. Genomic medicine uses a person’s DNA, or Genome, to inform their diagnosis, treatment and other healthcare.
We’re convinced that whole genome sequencing can help diagnose the majority of children with rare disease and paediatric cancer. We’ve created a genomic medicine centre in the children’s hospital to build on that foundation. We want to tailor medicine to individual patients and this will be facilitated by our clinical research being within the new hospital.
Professor David Rowitch. Cambridge Children’s Hospital Research Lead
As well as trying to understand how diseases develop, researchers will be able to use this new hub alongside NHS standard care and look at improving data acquisition and diagnosis in ways that mimic NHS clinical pathways. It will be able to accelerate research and help clinicians find new diagnoses in some of the most precarious diseases in children and young people.
Professor Rowitch, who is also a paediatric consultant at CUH, is looking at using whole genome sequencing to improve the diagnosis of patients with cerebral palsy. He explained: “This unique facility enables researchers, scientists and NHS clinicians to collaborate to accelerate impact for patients we care for. We can more rapidly learn how to augment diagnostic and data analytic pathways and provide faster diagnosis for patients in Cambridge, with the goal of rolling out improved procedures across the NHS.”
University of Cambridge researchers Dr Aditi Vedi and Professor Sam Behjati, both consultant paediatric oncologists at CUH, have already begun to use the facility for their studies. They are running a pilot study to see if they can massively speed up WGS diagnosis for paediatric cancer for results within 24-hrs.
Cambridge researchers have blazed a trail in demonstrating how use of whole genome sequencing technologies can accelerate the care of severely sick children. We look forward to seeing more advances as this exciting story unfolds – helped by this excellent collaboration between Cambridge researchers and Illumina.
Professor Miles Parkes, Director of the NIHR Cambridge BRC
Mark Robinson, VP and General Manager, UK & Ireland, Northern Europe at Illumina said: “Illumina is proud to be part of this important collaboration which brings together key researchers utilizing genomics in Cambridge, with cutting edge sequencing technology deployed into the Innovation Hub hospital lab. This collaboration will provide insights and feedback, helping to improve delivery of genomic data and provide the right answers to researchers, and importantly to patients.”