A team of researchers including Dr James Watkins, molecular pathology clinical lead for the East GLH (East GLH), Jamie Trotman, clinical scientist, East GLH, Dr Helen Hatcher clinical lead, East Genomic Medicine Service Alliance (East GMSA) and colleagues have been presented with the Sarcoma UK Shining Research of the Year Award in recognition of their work on a successful study demonstrated the transformative potential of whole genomic sequencing (WGS) for people undergoing treatment for sarcoma. The study was published earlier this year (opens in a new tab) in the British Journal of Cancer.
Speaking about the award win, Dr Watkins said:
I am merely grateful that we have been able to make the benefits of this approach more widely known to patients across the country – we want as many as possible to have access to it. Accurate diagnosis is key to ensuring the best treatment for patients. With whole genome sequencing, we can look at every gene in the cell and seek out potential treatment options tailored for each patient.
Find out more about the Sarcoma UK awards
Sarcoma is a type of cancer that can be found in many different parts of the body and can be difficult to diagnose and treat. Around 5,300 people are diagnosed with it in the UK each year. As part of the study 67 patients from Cambridge University Hospitals NHS Foundation Trust were offered WGS. The test changed the diagnosis of around a third of patients, while another third were found to be suitable for more personalised, targeted therapy. This is a notable improvement over standard procedures, where only 1 in 10 patients can be offered personalised treatment.
Sarcoma UK’s Director of Research, Policy and Support, Dr Sorrel Bickley, said:
This important research represents a significant leap forward in the evidence to support the role of genomics in sarcoma. Sarcoma patients can gain real benefit from access to genetic testing, and this work brings us closer to making the case for every person with sarcoma to receive an accurate diagnosis and targeted treatment as soon as possible.
Balwinder Singh, 58 from Bedford, is a sarcoma patient that was offered new treatment as a result of WGS. He said: “The treatment that I have moved onto, thanks to whole genome sequencing, has transformed my life. It has given me a quality of life that I had not expected after being very ill for some time. My hair has grown back, eating is back to normal and I’ve put on weight – all due to my new treatment. I am now much more mobile around the house and able to drive again; I can drive myself to my hospital appointments, having been too weak to do this for some time. I was able to travel to India to see my family which wasn’t possible before.”
The research was a collaboration between NHS East Genomics Laboratory Hub, Cambridge University Hospitals NHS Foundation Trust, MRC Metabolic Diseases Unit, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, the National Institute for Health Research, the Cambridge Biomedical Research Centre, Royal National Orthopaedic Hospital and Genomics England.
