Whole genome sequencing ‘game changer’ for diagnosis and personalised treatment of adult patients with cancer
New research shows that whole genome sequencing (WGS) is invaluable in patients with a certain type of cancer that is difficult to diagnose and treat.
Sarcoma is a type of cancer that can appear anywhere in the body. Each year around 5,300 people in the UK are diagnosed with it. There are two main types: soft tissue sarcoma, which develops in connective tissue such as muscle, nerves, tendons and blood vessels, and bone sarcoma, which is much rarer.
The research study, published in the British Journal of Cancer, offered WGS as standard care to 67 patients who were undergoing treatment for sarcoma at Cambridge University Hospitals (CUH) NHS Foundation Trust over a two year period.
WGS changed the diagnosis in about one third of patients and enabled a third to be switched to a more personalised, targeted treatment.
It also changed the diagnosis for 25 of the 67 patients. For some patients, the genomic profile revealed by WGS suggested an alternative diagnosis that had not previously been considered. For 22 patients, WGS identified at least one potential target for personalised cancer therapy.
WGS allows us to read someone’s entire genome – the 3.2 billion letters that make up our DNA – with just one single test. For patients with cancer, this technique can be used to compare DNA from their tumour to the DNA in their healthy tissues.
“This publication is a further example of how implementation of whole genome sequencing as a clinical test within the healthcare system has unlocked so many exciting opportunities for precision oncology and moving further away from a one size fits all approach to cancer care for patients’ benefit.
“The outcomes of the study will also contribute to continuously growing a national genomic research dataset, which offers one-of-a-kind insights that are helping genomic testing in this country go from strength to strength.”
Dr Alona Sosinsky
Co-author and Scientific Director for Cancer at Genomics England
Genomics England supported the study through its clinically accredited pipeline for the analysis and interpretation of WGS. Genomics England also provided access to data in the National Genomic Research Library (NGRL) - a database containing healthcare data and biological samples, established to facilitate future research. All the data held is de-identified, consented data from patients and participants through participation in research, such as the 100,000 Genomes Project, or NHS care.
“This study shows that whole genome sequencing is a game-changer for diagnosis and treatment of patients with sarcoma. Diagnosis is particularly challenging because sarcomas are highly variable and non-sarcomatous tumours can also mimic sarcoma. It’s essential to get an accurate diagnosis to ensure optimal treatment, and current diagnostic approaches are often insufficient to do so. Sarcoma can also be challenging to treat and whole genome sequencing allows us to look at every gene in the cell to seek out potential personalised treatment options for patient benefit.”
Dr James Watkins
Lead author, Molecular Pathology Clinical Lead for East Genomic Laboratory Hub (East GLH)
Mr Balwinder Singh, 58 years old, from Bedford is one patient whose treatment and wellbeing has been transformed following whole genome sequencing. After starting chemotherapy for an aggressive form of soft tissue sarcoma cancer in September 2022, his disease progressed. He had whole genome sequencing in November 2022 with the aim of looking for new targets for his treatment due to the progression of his disease.
The WGS finding meant Mr Singh was eligible to get immunotherapy on compassionate grounds in April 2023. Mr Singh 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.
