Why Whole Genome Sequencing Could Improve Childhood Cancer Treatments

Decoding the entire genetic sequence of a child’s cancer should become standard practice in the NHS.

That’s according to researchers who found it improved care in many cases — and offered more benefits than current tests.

Doctors studied the whole genome sequence of cancer in 281 children. In nearly a third of cases, he provided additional information about their illness and future treatment.

For 20 children, it improved decisions about their care that could not have been made without the “gold standard” whole-genome sequencing.

One type of genetic testing is performed on most types of cancer and looks for certain mutations in the DNA of tumor cells (or blood cells in the case of blood cancer).

This can have a direct impact on how well the cancer may respond to treatments such as chemotherapy or radiotherapy.

But the genetic features of a cancer are especially important in children—and multiple tests are often performed during a child’s treatment.

A whole genome sequencing test looks at all the mutations that may be present in a tumor or blood cancer cell and includes the individual’s “normal” genetic background, represented by genes not associated with the disease.

“Let’s offer this to every child that walks through the door,” said study author Professor Sam Behjati at the Wellcome Sanger Institute near Cambridge.

“This is a powerful example of the healthcare genomics data revolution enabling us to provide better, more individualized care for children with cancer.”

Cambridge University Hospitals Trust and Great Ormond Street Hospital also took part in the study.

“A deeper genetic understanding of cancer is crucial in guiding our practice,” said co-author Dr Jack Bartram at Great Ormond Street Hospital.

“Our research shows that whole-genome sequencing provides tangible benefits over existing tests.”

One of the children in the study was Eddie Pessoa de Araujo, diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) when he was six years old.

Whole genome sequencing allowed Dr Bartram, who is also Eddie’s consultant, to know that his individual cancer was likely to respond well to standard chemotherapy treatment.

Eddie, now nine, has just finished treatment for T-ALL, which is now in remission.

“Having access to the full genome sequence gave us a sense of security, it could have informed us about targeted treatments and given us an insight into future risk,” said Eddie’s mother Harry.

Genome-wide sequencing of Eddie’s cancer also revealed that his brother was not at increased risk of T-ALL.

Follow Sky News on WhatsApp

Keep up with all the latest news from the UK and around the world by following Sky News

Tap here

Through the Genomic Medicine Service, NHS England already offers whole genome sequencing for every child diagnosed with cancer, but it is not used routinely by most hospitals.

The researchers conclude that it should be, and not just because of improvements in patient care.

Collecting more genetic information on the deleterious mutations – and the normal genetic background in which they occur – of children’s cancer patients in the NHS would represent an invaluable resource for research.

“The UK is poised to be a world leader in pediatric cancer genomics research,” Prof Behjati said.