Examining genes of children with cancer will ‘help more survive’

Unraveling the genetic codes of all children with cancer could lead to better diagnosis and treatment, scientists say.

In a pilot study at Addenbrooke’s Hospital in Cambridge, researchers examined the whole genome of a small number of children with ‘solid’ cancers.

By analyzing cancers at this level of detail, researchers found they could provide more tailored treatments to children.

The NHS in England is rolling out full genome testing for all children with suspected cancer and some adults with cancer.

Experts call it an “exciting advance” to improve outcomes for youth with cancer.

Presenting data from the pilot study at the NCRI festival, the researchers said they examined the genomes of just 36 children:

– in seven cases, it revealed treatments that may not have been considered, but were likely to be effective in treating the children.

– for one child, scientists found that two genes were stuck together, known as gene fusion, and this probably encouraged their tumor to grow. Knowing this meant doctors could offer another treatment called an MEK inhibitor, which would not normally be used to treat this type of cancer.

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– in two cases, the information refined the diagnosis of children.

– in four cases it changed their diagnosis.

dr. Patrick Tarpey, lead scientist for solid cancer at the East Genomic Laboratory Hub, based at Cambridge University Hospitals NHS Foundation Trust, said in presenting the findings of the pilot study: “Our results from this relatively small pilot group of children with cancer show how the diagnosis and treatment can be improved.

“It suggests that providing full genome sequencing to all children with cancer will provide more accurate information about diagnosis and prognosis, demonstrate whether there is a hereditary cancer risk, and help inform treatment options.

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

dr. Julia Chisholm, Chair of NCRI’s Children’s Group, based at The Royal Marsden NHS Foundation Trust, said: “This research shows that it is feasible and useful to analyze the entire genetic code in children diagnosed with cancer.

“Full genome sequencing helps us be more accurate in tumor diagnosis and tailor treatments as closely as possible to individual patients.

“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 for Genomics at NHS England, said: “Genomic medicine can change lives, make faster and better diagnoses and increase the number of patients who survive cancer. There is now a service in the world to deploy complete 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 nationwide to enable 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 childhood 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 provide immediate benefits for cancer patients, informing personalized 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 the future.”

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