World-first genomic testing scheme ensures every child gets the best cancer treatment for them


Children with cancer are being offered treatment plans tailored to their specific cancer thanks to a single genomic test that reads more than three billion letters of DNA to identify cancer-causing mutations.

Whole genome sequencing test provides a complete readout of the genetic makeup of cancer cells and identifies every single known cancer-causing mutation. This helps clinicians to understand which treatments will be best to treat the cancer, for example they may choose immunotherapy rather than chemotherapy or they may be able reduce the amount of chemotherapy a child has.

NHS England is one of the first healthcare service in the world to offer whole genome sequencing to every child diagnosed with cancer, through the NHS Genomic Medicine Service and this study, published in Nature Medicine, is the first time that the impact of the new scheme has been assessed.


The Research


Whole genome sequencing was found to provide more benefits than all existing tests combined, when it was assessed by researchers at Great Ormond Street Hospital for Children, the Wellcome Sanger Institute and the University of Cambridge. Previous standard-of-care tests only look at tiny portions of the cancer genome, and therefore many more tests are often required for each child.

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 cancer sequencing gave new insight that improved the immediate clinical care of seven per cent of children, while also providing all the benefits of current standard tests.

In 29 per cent of cases, genome sequencing provided additional information that helped clinicians better understand the tumours of individual children and therefore which treatments would work best for them. For example, uncovering unexpected mutations that increase future cancer risk leading to preventative measures being taken, such as regular screening.


‘Having whole genome sequencing gave us some sense of reassurance’


When Eddie was six years old, he began having frequent fevers and his mum Harri noticed that on one or two occasions he seemed out of breath while doing things like reading a book.

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

Mum Harri said: “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.”

Eddie was put onto a treatment plan that included eight 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 whole genome sequencing to identify any cancer-causing changes.

Harri said: “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.

On his seventh birthday, Eddie’s family received the call to say he was in remission. He is now nine years old and has just finished his treatment and is doing well.

Harri said: “Words can’t explain what Eddie has been through this past three years but he has come out the other side as a sensitive, confident, and smart young man. He is mature beyond his years and he has been involved in everything, including decisions about his treatment. To say we are proud, doesn’t even come close to how we truly feel about him.

“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.”

‘Whole genome sequencing should be part of routine clinical care’


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 and a lack of evidence from real-time practice supporting its use, whole cancer genome sequencing is not yet widespread practice.

Jack Bartram, who is a consultant Paediatric Haematologist at GOSH and the North Thames Genomic Medicine Service, was a senior author on the research.

He 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.”

Senior author from the Wellcome Sanger Institute, the University of Cambridge and Cambridge University Hospitals, Professor Sam Behjati, 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.”

To find out more about whole genome sequencing visit NHS England » Whole genome sequencing for children – An information guide for parents, carers and families


New Children’s Cancer Centre will help improve treatments


Replacing outdated buildings on Great Ormond Street, our new Children’s Cancer Centre will mean that children with rare and complex cancers will receive care in the best possible environment, making it easier for them to be able to play, continue with school and participate in normal activities. The CCC will also enhance our ability to research and innovate to develop new and kinder treatments for cancer.

With significant outside space, a new hospital school, child centre inpatient wards and day care spaces, imaging, theatres and critical care services linked to the existing hospital, children and young people coming to GOSH will have access to the very latest technologies and receive care and treatment in environments that reflect their needs.

For more information visit Children’s Cancer Centre.

GOSH Charity is fundraising for the Children’s Cancer Centre, find out more about how you can be part of Build it Beat it.

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