Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care. Research published today supports the efforts to provide genome sequencing to all children with cancer and shows how it can improve the management of care in real-time, providing more benefits than all current tests combined.
Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care. Research published today supports the efforts to provide genome sequencing to all children with cancer and shows how it can improve the management of care in real-time, providing more benefits than all current tests combined.
This is a powerful example of the genomic data revolution of healthcare that enables us to provide better, individualised care for children with cancer
Sam Behjati
探花直播study, published on 2 July in Nature Medicine, is the first time that the impact of using whole genome sequencing in current NHS practice has been assessed. It was led by researchers at the 探花直播 of Cambridge, Cambridge 探花直播 Hospitals NHS Trust, Wellcome Sanger Institute and Great Ormond Street Hospital.
探花直播team analysed the use of routine genome sequencing, through the NHS Genomic Medicine Service, at Cambridge 探花直播 Hospitals, where such tests are given to all children with solid tumours, and at Great Ormond Street Hospital, which provides the test for childhood leukaemia.
探花直播researchers found that cancer sequencing gave new insights that improved the immediate clinical care of seven per cent of children, while also providing all the benefits of current standard tests.
Furthermore, in 29 per cent of cases, genome sequencing provided additional information that helped clinicians better understand the tumours of individual children and informed future management. For example, uncovering unexpected mutations that increase future cancer risk leading to preventative measures being taken, such as regular screening.
Overall, whole genome sequencing provides additional, relevant data, about childhood cancer that is useful for informing practice. 探花直播results also show that it can reduce the number of tests required, and therefore, researchers suggest it should be provided to all children impacted by cancer.
Whole genome sequencing (WGS) is a single test that provides a complete readout of the entire genetic code of the tumour 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.
Professor Sam Behjati, senior author from the Wellcome Sanger Institute, Cambridge 探花直播 Hospitals, and the 探花直播 of Cambridge: 鈥淲hole 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.鈥
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. 听
探花直播latest study looked at 281 children with suspected cancer across the two units. 探花直播team analysed the clinical and diagnostic information across these units and assessed how genome sequencing affected the care of children with cancer.
They found that WGS changed the clinical management in seven per cent of cases, improving care for 20 children, by providing information that is not possible to acquire from standard of care tests.
Additionally, WGS faithfully reproduced every one of the 738 standard of care tests utilised in these 281 cases, suggesting that a single WGS test could replace the multiple tests that the NHS currently uses if this is shown to be economically viable.
WGS provides a detailed insight into rare cancers, for example, by revealing novel variants of cancer. 探花直播widespread use of genome sequencing will enable clinicians to access these insights for individual patients while simultaneously building a powerful shared genomic resource for research into new treatment targets, possible prevention strategies, and the origins of cancer.
Dr Jack Bartram, senior author from Great Ormond Street Hospital NHS Foundation Trust and the North Thames Genomic Medicine Service, said: 鈥淐hildhood 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 be delivered as part of routine clinical care to all children with suspected cancer.鈥
Professor Behjati at the Department of Paediatrics, 探花直播 of Cambridge, and is a Fellow of Corpus Christi College, Cambridge.
This research was supported in part by Wellcome, the Pessoa de Araujo family and the National Institute for Health and Care Research.
Reference
A Hodder, S Leiter, J Kennedy, et al. . Nature Medicine; 2 July 2024; DOI: 10.1038/s41591-024-03056-w
Adapted from a press release from Wellcome Sanger Institute
Eddie鈥檚 story
When he was six-years old, Eddie 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. 听A chest x-ray revealed a huge mass on Eddie鈥檚 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.
鈥淚 know it sounds like a clich茅, but you really don鈥檛 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,鈥 said Harri, Eddie's mum.
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鈥檚 family were also offered WGS to identify any cancer-causing changes.
鈥淲hen we were offered whole genome sequencing, we didn鈥檛 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鈥檚 brother, Leo, wasn鈥檛 any more likely to get T-ALL because Eddie had,鈥 said Harri.
On his seventh birthday, Eddie鈥檚 family received the call to say he was in remission. Now, at nine years-old Eddie is nearing the end of his maintenance treatment and is doing well.
鈥淲e 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. Words can鈥檛 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.听 He is mature beyond his years and he has been involved in everything, including decisions about his treatment. To say we are proud, doesn鈥檛 even come close to how we truly feel about him,鈥 said Harri.
Their personal experience of WGS was so important on their journey that they provided support for this research.
Harri added: 鈥淚 always say that having a child with a cancer diagnosis feels like you鈥檝e been standing on a trap door all these years without knowing. Then after the diagnosis, you are in freefall. And even when things are stable again, you are constantly aware that the trap door is still there and there is a possibility it could open again at any time. 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.鈥
探花直播text in this work is licensed under a . Images, including our videos, are Copyright 漏 探花直播 of Cambridge and licensors/contributors as identified. All rights reserved. We make our image and video content available in a number of ways 鈥 on our main website under its Terms and conditions, and on a range of channels including social media that permit your use and sharing of our content under their respective Terms.
