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Whole genome sequencing helps Cambridge University Hospitals provide answers for more than 100 children with cancer



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More than 100 children with cancer across the East of England have had their tumours analysed via whole genome sequencing to aid diagnosis and treatment.

The results of the sequencing have been interpreted by scientists in the NHS Genomic Medicine Service at Cambridge University Hospitals NHS Foundation Trust (CUH).

Whole genome sequencing, or WGS, examines the entire DNA profile of a patient as well as the genome of the cancer.

Whole genome sequencing offers more comprehensive data than targeted approaches
Whole genome sequencing offers more comprehensive data than targeted approaches

Studying variants, or mutations, in tumour DNA compared to blood helps provide a more precise, personalised diagnosis, which in some cases can guide treatment options.

The families involved gave their consent as part of the national 100,000 Genomes Project and the data from the first 36 children involved have been published in the British Journal of Cancer and were shared at the National Cancer Research Institute (NCRI) Festival.

The findings describe 23 different solid tumour types, and revealed several important variants.

This helped to refine or change the diagnoses for a number of the children and revealed new information about their prognoses, showed hereditary causes or suggested treatments that might not otherwise have been considered.

A further 65 patients have had their whole genomes read since the test was made routinely available through the NHS Genomic Medicine Service at the beginning of 2021 and the team said early review of this data is also demonstrating the value of WGS for children with cancer.

Among the patients was Aubrey, from Bedfordshire, who was diagnosed with cancer in January 2021, aged just 16 months old, but there was uncertainty over its type, so her parents agreed to a WGS test for Aubrey.

Studies have shown the valuie of whole genome sequencing for diagnosis
Studies have shown the valuie of whole genome sequencing for diagnosis

Anna said: “The test gave us a confirmed diagnosis for Aubrey after other tests had narrowed it down to one of two potential types of cancer. The result meant that the clinicians could be more confident as to the best treatment to use.”

“Whist we still have a challenging journey with Aubrey’s diagnosis and treatment, we were relieved to know that she did not have cancer that was inherited, and hence we did not have to worry that it could affect our son or other members of the family as well.”

Prof Matthew Murray, honorary consultant paediatric oncologist at CUH, said: “Seeing 100 children with cancer benefit from WGS is a milestone. Overall, as a result of these tests, we’ve been able to confirm or refine the diagnosis for many of the children, identify and in some cases start new and beneficial treatment, and importantly in others have a clearer idea of the likely course of a patient’s cancer.”

Dr Sam Behjati, honorary consultant paediatric oncologist at CUH, and a group leader from the Wellcome Sanger Institute, added: “Detailed results from this single and comprehensive test, supported by analysis from our scientists, offers more answers and hope for clinicians, patients, and their families.

Sam Behjati at the Wellcome Sanger Institute. Picture: Wellcome Sanger Institute
Sam Behjati at the Wellcome Sanger Institute. Picture: Wellcome Sanger Institute

“As the service develops, we’ve seen WGS test results come back more quickly, which, if indicated, allows more immediate changes to a patient’s treatment journey to be made.”

Following referral, and where consent is given, a tumour sample is sent alongside a blood sample via the NHS East Genomic Laboratory Hub to Illumina, based at Granta Park, for sequencing. The results are then discussed by the patient’s clinical team and scientists from the laboratory hub.

Prof David Rowitch, head of the Department of Paediatrics at the University of Cambridge
Prof David Rowitch, head of the Department of Paediatrics at the University of Cambridge

Prof David Rowitch, academic lead at the forthcoming Cambridge Children’s Hospital, said: “We are using WGS to benefit the sickest children with rare genetic diseases and cancer. The findings are transforming the routine practice of paediatrics and we can do more to improve treatment. Therefore, we are building the new NHS Cambridge Children’s Hospital to be a world’s first facility, integrating both physical-mental healthcare and genomic research.”

Prof Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in the NHS, said: “I’m delighted to see children benefitting from WGS and the technology assisting clinicians in diagnosing cancer more effectively and helping to personalise treatment.

“This demonstrates the transformative impact WGS can have on the care our patients receive and I’m proud that the NHS is the first integrated healthcare system in the world offering this kind of testing routinely through the NHS Genomic Medicine Service.”

Read more

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