Routine whole genome sequencing improves child cancer care

Routine whole genome sequencing can improve treatment options for children with cancer, according to a recent NHS trial.

The research, conducted by the Wellcome Sanger Institute, Cambridge University Hospitals NHS trust, and Great Ormond Street Hospital, analysed whole genome sequencing data from 281 English children with cancer. This data enhanced the immediate clinical care for seven percent of children, and provided 'additional disease-relevant findings' in 29 percent of cases.

'Whole genome sequencing provides the gold standard, most comprehensive and cutting edge view of cancer' said Professor Sam Behjati, a senior author of the study, paediatric oncologist and researcher based at the Wellcome Sanger Institute, the University of Cambridge and Cambridge University Hospitals. 'What was once a research tool that the Sanger Institute started exploring over a decade ago, has now become a clinical test that I can offer to my patients.'

The study, published in the journal Nature Medicine, provides evidence for the clinical benefit of routine whole genome sequencing, both by replicating the findings from currently applied tests, and identifying previously unknown features of childhood cancer that could inform treatment options.

Cancers that occur in children are very often driven by a tumour's intrinsic genetic features. Consequently, a range of tests aiming at identifying these factors individually are already available to clinicians.

Whole genome sequencing, through which the entire genome of a tumour can be analysed in a single test, should be able to identify all relevant features. However, the tangible benefits of including whole genome sequencing in routine clinical care had not yet been studied.

While also being able to identify clinically relevant features of childhood cancer, this study was able to accurately reproduce the results from every molecular test that is currently included in standard-of-care. This provides further evidence that whole genome sequencing can add valuable information beyond current best practices.

'Our research shows that whole genome sequencing delivers tangible benefits above existing test, providing better care for our patients', said Dr Jack Bartram, a senior author based at the Great Ormond Street Hospital NHS Foundation Trust.

He added, 'we hope this research really highlights why whole genome sequencing should be delivered as part of routing clinical care to all children with suspected cancer.'

Future work will likely surround the implementation of whole genome sequencing in clinical practice. This will include the necessary turnaround time, which will vary depending on the specific cancer, as well as identifying centres who could benefit most from whole genome sequencing, such as those that do not currently employ standard testing.

Additionally, the authors suggest that replacing the current array of tests with whole genome sequencing could lead to lower costs, especially as the price of sequencing is decreasing dramatically. However, further in-depth analysis of the economic benefits of whole genome sequencing is needed to determine this.