Mum hopes Cambridge genetic study leads to better treatment for childhood cancer
The study found more than half of children got genomic test results in days rather than weeks
A mum whose son was diagnosed with leukaemia says a new Cambridge-led study could help families get quicker and better treatment for childhood cancer.
In the study, doctors found that faster whole genome sequencing (WGS) reduced the average wait for results from six weeks to three days.
While the findings show having results sooner could enable earlier diagnoses, more targeted treatments and help avoid unnecessary treatments.
"Thankfully my son's not been too bad but I know other families where three-and-a-half years of chemotherapy have left their children unable to walk or other side effects," mum Razia said.
"Any of that which could be avoided would help alleviate stress for patients' families."
WGS reads the complete genetic code and offers vital information that can help doctors to provide the best diagnosis and treatment, but results can take six weeks or more.
Razia, from St Albans, Hertfordshire is supporting the rapid WGS trial after her son Zayan - treated at Addenbrooke's Hospital in Cambridge and has been cancer-free for the last two years - had conventional WGS on the NHS in 2021.
What did the study find?
The research, led by teams in Cambridge, used rapid WGS to analyse samples from children at Addenbrooke’s Hospital, while any findings that had the potential to change treatment decisions were verified using clinically-approved tests.
Experts found the average wait for test results for more than half of children reduced from six weeks to three days through rapid WGS.
For these children, the findings helped doctors to select better treatments, resulting in faster responses and fewer side effects and in some cases, children were able to avoid unnecessary treatments.
The study included samples from 54 children with all kinds of cancers, including children with blood cancers and tumours of the brain and other organs.
Of these, 35 were analysed at the time of diagnosis, of which 18 had their treatment improved due to WGS.
This included two children who avoided invasive treatments as their tumours disappeared on their own and two other children who were able to have less extensive kidney cancer surgeries.
More targeted treatment is a positive, says mum
Razia's son was unable to have rapid WGS to improve his treatment for T-cell acute lymphoblastic leukaemia, but hopes the trial can help other families trying to find the best recovery for their child.
"Rather than one type of treatment across the board, I think it will allow more of that personalised medicine for each child," she said.
"Even if each child has the same type of disease, they react differently and less medication is probably better with fewer side effects.
"The fact that this (treatment) would be available across the board is crucial."
The rapid WGS approach has been developed at the Cambridge Children’s Innovation Hub.
This hub is a a collaboration between Cambridge University Hospitals NHS Foundation Trust (CUH), NHS East Genomics, the Department of Paediatrics, University of Cambridge and Illumina.
It is also supported by the National Institute of Health and Care Research Biomedical Research Centre: Cambridge and will be part of the Cambridge Children's Hospital when complete.
Researchers are now developing a national paediatric genomic Network of Excellence group supported by NHS England, which will bring together experts from across England to develop rapid WGS for use in the NHS.
"Patients will be helping us and future patients because what we're going to develop is a big repository of data," Dr Aditi Vedi, paediatric oncologist at CUH who led the rapid WGS study, said.
"That will help us which types of cancers respond to treatments and which ones don't so we can predict that early and send patients down the correct treatment path rather than two, three years after we've given them the treatment."
"By making that information available as quickly as possible we’re maximising the potential for children to benefit, helping them to experience fewer side effects, potentially avoid unnecessary treatments, and giving them a better chance to go on to live healthy lives.”