Unravelling the genetic codes of all children with cancer could lead to improved diagnosis and treatment, scientists have said.
A pilot study at Addenbrooke’s Hospital in Cambridge saw researchers examine the whole genome of a small number children with “solid” cancers.
By analysing cancers at this level of detail, researchers found that they were able to offer more tailored treatments to children.
The NHS in England is rolling out whole genome testing for all children with suspected cancer and some adults with cancer.
Experts have called it an “exciting advance” to improve the outcomes for youngsters with cancer.
Presenting data from the pilot study at the NCRI Festival, researchers said that they examined the genomes of just 36 children:
– in seven cases it revealed treatments that might not have been considered but were likely to be effective for treating the children.
– for one child, scientists found that two genes had become stuck together, known as gene fusion, and this was probably encouraging their tumour to grow. Knowing this meant that doctors could offer a different treatment, called an MEK inhibitor, that would not normally be used to treat this type of cancer.
– in two cases, the information refined children’s diagnosis.
– in four cases, it changed their diagnosis.
Presenting the pilot study findings, Dr Patrick Tarpey, lead scientist for solid cancer in the East Genomic Laboratory Hub, based at Cambridge University Hospitals NHS Foundation Trust, 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.”
Dr Julia Chisholm, chairwoman of the NCRI’s Children’s Group, based at The Royal Marsden NHS Foundation Trust, 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.”
Professor Dame Sue Hill, chief scientific officer for England and senior responsible officer for genomics in NHS England: “Genomic medicine can transform lives, bringing quicker and better diagnoses and increase the number of patients surviving cancer and that is why the NHS is the first health service in the world to offer whole genomic testing as part of routine care for children with suspected cancer and for adults with sarcoma and some blood cancers.
“This service is being rolled out across the country to allow routine access to testing at seven NHS Genomic Laboratory Hubs that can report results to clinicians and inform the best treatment and care for patients.”
Louis Chesler, professor of paediatric cancer biology at The Institute of Cancer Research, added: “The rollout of genomic sequencing technologies by the NHS is an exciting advance with the potential to improve outcomes for young people with cancer.
“Not only could it hold immediate benefits for cancer patients, informing personalised treatments, analysis of data generated through the 100,000 Genomes Project could support research that could lead, in the longer term, to better diagnosis and treatment options for patients in future.”
Meanwhile a separate study presented to the NCRI Festival called for better recognition of kidney cancer symptoms among children.
Researchers said that children with kidney cancers continue to be diagnosed with larger and more advanced tumours in the UK and Ireland than in other western European countries after examining 603 of 712 registered cases of kidney cancer in children between 2012 and 2018.
The authors called for all staff providing healthcare for British children to be trained in paediatric medicine.