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Cutting-edge genomic test can improve care of children with cancer

Cambridge researchers say a genetic test offered by the NHS improved clinical care of children with cancer, and should be provided to all children with cancer.

Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care, says a paper led by Professor Sam Behjati.

Professor Sam Behjati
Professor Sam Behjati

The research from the Wellcome Sanger Institute, Cambridge University Hospitals NHS Trust, University of Cambridge and Great Ormond Street Hospital, 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.

The study, published today (2 July) in Nature Medicine, is the first time that the impact of using whole genome sequencing in current NHS practice has been assessed.

The team analysed the use of routine genome sequencing in two English children's cancer centres for solid cancer and leukaemia and 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.

Furthermore, in 29 per cent of cases, genome sequencing provided additional relevant findings 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 and relevant to informing practice. The 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 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.

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.

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

WATCH: Dr Jonathan Kennedy from CUH explains more


Professor Behjati added: "Understanding the genetic basis of health and disease is central to Cambridge Children’s Hospital’s vision, the first specialist children’s hospital for the East of England. By embedding a state-of-the-art research institute into a future NHS hospital, researchers will continue to use cutting edge genomics to help predict, prevent and treat childhood cancer and revolutionise our approach to children’s health”.

The front of Cambridge Children's Hospital
Architect Image of Cambridge Children's Hospital. Architect image showing Cambridge Children's Hospital. Credit Hawkins\Brown and White Arkitekter

NHS England is one of the few health services in the world that has a national initiative 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 practice1.

The latest study, from the Wellcome Sanger Institute, Cambridge University Hospitals NHS Trust, Great Ormond Street Hospital, and the University of Cambridge, looked at 281 children with suspected cancer across two English units where this gold-standard test is provided regularly2.

The 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. The 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.

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.

Dr Jack Bartram, senior author from Great Ormond Street Hospital NHS Foundation Trust

Dr Bartram continued: “Our research shows that whole genome sequencing delivers tangible benefits above existing tests and should therefore be delivered as part of routine clinical care to all children with suspected cancer.”

Case studies at CUH that have formed part of this research include that for baby Oliver in which his WGS test ruled out cancer, and also that for Aubrey which gave a confirmed diagnosis aiding appropriate treatment.