A new research study led by the Wellcome Sanger Institute, Cambridge University Hospitals NHS Trust, Great Ormond Street Hospital, and the University of Cambridge assessed the impact of using WGS in children’s cancer and found that it can improve the management of care in real time and provides more benefits than all current tests combined.  

Whole genome sequencing is a single test that provides a complete readout of the genetic makeup of the tumour, consisting of three billion letters, and identifies every single cancer-causing mutation.  

Comparatively, traditional standard-of-care tests only look at tiny regions of the cancer genome, and therefore many more tests are often required per child. 

Key findings

The team analysed the use of routine genome sequencing taken as part of standard NHS care in two hospitals, Great Ormond Street Hospital and Cambridge University Hospitals, with the sequencing run through their regional NHS Genomic Laboratory Hubs (GLH) – the North Thames GLH and East GLH. 

They found that genome sequencing gave new insight that improved the immediate clinical care of 7% of children, while also providing all the benefits of current standard tests.   

In 29% of cases, genome sequencing provided additional information that helped future care and helped clinicians understand the tumours better. For example, uncovering unexpected mutations that increase future cancer risk meaning preventive measures could be taken. 

Overall, whole genome sequencing provides additional data about childhood cancer that is useful and relevant to informing practice and can reduce the number of tests required. 

“Whole genome sequencing should be delivered as part of routine care to all children with suspected cancer”

NHS England is one of the few health services in the world that has a national initiative, through the Genomic Medicine Service, offering universal genome sequencing to every child with suspected cancer. However, due to multiple barriers, whole cancer genome sequencing is not yet widespread practice. 

Dr Jack Bartram, senior author from Great Ormond Street Hospital NHS Foundation Trust and the North Thames Genomic Medicine Service, said:  

Childhood cancer treatment is mostly guided by genetic features of the tumour, and therefore an in-depth genetic understanding of cancer is crucial in guiding our practice. Our research shows that whole genome sequencing delivers tangible benefits above existing tests, providing better care for our patients. We hope this research really highlights why whole genome sequencing should delivered as part of routine clinical care to all children with suspected cancer.” 

Professor Sam Behjati, senior author from the Wellcome Sanger Institute, the University of Cambridge and Cambridge University Hospitals, said:  

Whole genome sequencing provides the gold standard, most comprehensive and cutting edge view of cancer. What was once a research tool that the Sanger Institute started exploring over a decade ago, has now become a clinical test that I can offer to my patients. This is a powerful example of the genomic data revolution of healthcare that enables us to provide better, individualised care for children with cancer.”   

Eddie’s story

Eddie was six when he began to have regular low-grade fevers that seemed to affect him a lot. Even though early tests came back normal, the fevers became more frequent and his Mum, Harri, noticed that on one or two occasions he seemed out of breath while doing small things like reading a book.   

A chest x-ray revealed a huge mass on Eddie’s chest, and he was diagnosed with T-cell acute lymphoblastic leukemia (T-ALL). Eddie was immediately transferred to Great Ormond Street Hospital (GOSH) to begin treatment.   

I know it sounds like a cliché, but you really don’t think it will ever happen to your child. It felt like our world fell out from under us. During those first few weeks I remember wondering if this was it, I was taking so many photos of us together and wondering if it could be the last.” Said Harri, Eddie’s mum.  

Eddie was put onto a treatment plan that included 8 months of intense chemotherapy, followed by two and a half years of maintenance treatment. As part of his treatment at GOSH Eddie’s family were also offered WGS to identify any cancer-causing changes. 

A boy in an orange jumper and a red life jacket as he smiles at the camera in a blue peddle boat

Two boys stand outside a restaurant in front of a plant. The smaller blonde haired boy wearing a camouflage jacket looks up at his older brother and smiles. His older brother stands to his right and smiles at the camera.

When we were offered whole genome sequencing, we didn’t even hesitate. I wanted to have all the information, I wanted to have some peace of mind for the future and know that Eddie was having the right care throughout. I also wanted to make sure that Eddie’s brother, Leo, wasn’t any more likely to get T-ALL because Eddie had.” Said Harri, Eddie’s mum. 

On his 7th birthday, Eddie’s family received the call to say he was in remission. Now, at 9 years-old Eddie is nearing the end of his maintenance treatment and is doing well.   

We are trying to live each day, and this experience has really changed our outlook on life. We always try to take the positive from every situation.”  Harri 

“We wanted to support something that had the potential to have a real impact on treatment”

WGS sequencing has been such an important part of their journey that Eddie’s family fundraised to help support this research.

Having access to whole genome sequencing gave us some sense of reassurance, it could have informed us about targeted treatments and gave us some insight into future risk.” 

We wanted to support something that had the potential to have a real impact on treatment and outcomes so when we heard about this research project and its potential, it was very exciting that we could be a small part of it. It helped us turn something so devastating into something positive and we just hope that this research helps.” Harri 

A family stand laughing in ward underneath a treatment bell
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