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How genome sequencing can change child cancer care

Monday November 8th 2021

Whole genome sequencing can feasibly be performed for children with cancer – and can frequently change diagnosis or treatment, a major UK conference will hear today.

Researchers reported the findings of a pilot study of the technique involving 36 child patients in Cambridge.

The findings were being reported at the UK’s National Cancer Research Institute Festival.

Doctors said that genome sequencing changed the diagnosis for four children and in two further cases, led to significant refinements.

Seven patients were offered better treatments identified through the sequencing, the researchers say. This included an instance of gene fusion.

Genetic sequencing of eight patients also led to new information about prognosis while in two instances the analysis revealed potential hereditary causes.

Researcher Dr Patrick Tarpey, lead scientist for solid cancer at Cambridge University Hospitals’ east genomic laboratory hub, said: “Our results from this relatively small pilot group of children with cancer, show how diagnosis and treatment can be improved. It suggests that offering whole genome sequencing to all children with cancer will provide more accurate information on diagnosis and prognosis, show whether there could be any hereditary cancer risk and help inform treatment options.

“As we scale up whole genome sequencing to complement current standard-of-care testing for children with cancer, we need to ensure we optimise all the steps in this process to reduce turnaround times and keep financial costs down.”

The chair of the NCRI children’s group Dr Julia Chisholm said: “This research shows that it’s feasible and beneficial to analyse the whole genetic code in children diagnosed with cancer. Whole genome sequencing helps us to be more precise in tumour diagnosis and to tailor treatments to suit individual patients as accurately as possible. As this innovation is introduced more widely, we hope that even more children will survive cancer.”

* A second study reported to the conference finds that the UK and Ireland are behind other western European countries in diagnosing children with kidney cancer. This leads to diagnosis with larger and more advanced tumours than elsewhere.

Researcher Professor Kathy Pritchard-Jones, Professor of Paediatric Oncology at UCL Great Ormond Street Institute of Child Health, said: "We know that in European countries where children have smaller tumours at diagnosis, the primary care provision is done by trained paediatricians working in the community. They may be more likely to examine a child all over when they come in with vague symptoms and, therefore, are more likely to pick up that something isn’t quite right in the abdomen.

"Efforts are required to achieve earlier diagnosis of kidney cancers in children in order to improve survival rates in the UK and Ireland. We believe that frontline primary healthcare for children should be provided by staff trained in children's medicine.”

Abstract: Clinical utility of whole genome sequencing for children with cancer.


Abstract: Reem Al-Saadi et al. Efforts to achieve earlier diagnosis of renal tumours in childhood are required to improve survival rates in the UK and Ireland.


Tags: Cancer | Child Health | Genetics | UK News

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