100 children mark genetic testing milestone

Professor Matthew Murray with patient Aubrey and her dad Paul
More than 100 children with cancer from across the East of England have had their tumours tested by whole genome sequencing, and interpreted by scientists in the NHS Genomic Medicine Service at Addenbrooke's, to help improve their diagnosis and treatment.

Aubrey was diagnosed with cancer in January 2021 when she was only 16 months old.

However, the actual type of Aubrey’s cancer was not certain, so her parents Anna and Paul agreed to her having her whole genome sequencing (WGS).

She's now one of more than 100 children to have benefited from this kind of testing and enabled doctors to identify in more detail, the best treatment for Aubrey.

The test gave 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.

Aubrey's mother Anna said: “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.”

Professor Matthew Murray, Honorary Consultant Paediatric Oncologist, CUH and member of our Paediatric Cancer Programme 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.”

In cancer, whole genome sequencing (WGS) looks at the ‘whole genome’ or entire genomic (DNA) profile of a patient as well as the cancer.

For children with cancer, scientists look for differences, known as ‘variants’ or ‘mutations’, in the DNA from their tumour compared with their blood.

This helps doctors and scientists give a far more detailed and personalised diagnosis, in some cases providing clues to the most effective treatments for each patient.

Data from the first 36 children, who consented to the test as part of the national 100,000 Genome Project cohort, has now been published in the British Journal of Cancer.

The published findings, also shared at the 2021 National Cancer Research Institute (NCRI) Festival, described 23 different solid tumour types, and revealed several potentially important variants.

In a number of cases, the information either refined or changed the children’s diagnosis, revealed new information about the children’s prognoses, showed hereditary causes, or revealed treatments that might not otherwise have been considered.

Since the test was made routinely available through the NHS Genomic Medicine Service at the start of 2021, a further 65 patients across the region have had their whole genomes read.
Early review of the data and outcomes shows that these results continue to demonstrate the value of centralised WGS for children with cancer.

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.

Dr Sam Behjati, Honorary Consultant Paediatric Oncologist, CUH, and a Group Leader from the Wellcome Sanger Institute said: "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."

Many of these patients have been referred to CUH from hospitals across the East of England for highly specialised treatment.

Following referral, the NHS pathway allows patients and family to meet the clinical team at CUH to discuss the next steps.

Once consent to WGS had been obtained, a sample of tumour (taken from the first biopsy whenever possible, usually taken from a previous procedure) is sent alongside a blood sample via the NHS East Genomic Laboratory Hub (NHS East GLH) to the company Illumina – located a few miles away from CUH.

Samples are then sequenced at Illumina and results sent back for discussion at a meeting with the patient’s clinical team as well as expert scientists from the NHS East GLH to decide on best patient management.

Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics in the NHS said: “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.”

Professor David Rowitch, Academic Lead at Cambridge Children’s Hospital, commented: "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. Thus 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.”

This data has been released to coincide with the publication of the results from the patients enrolled in the 100,000 genome project in the British Journal of Cancer.

22 Apr 2022