Recently, The Pathologist reported the findings of a study by Addenbrooke's Hospital, which used rapid whole-genome sequencing (WGS) in the diagnosis of all pediatric patients suspected of having cancer. The rapid system reduced the mean diagnostic turnaround from 42 to 3 days.
As National Health Service (NHS) England embark on a national pilot study of the technology, we asked study lead Aditi Vedi, a pediatric oncologist at Cambridge University Hospitals NHS Foundation Trust, how rapid WGS could lead to more personalized care for some children with cancer.
What is the current NHS model for WGS testing in pediatrics?
Since it was established in 2021, NHS provision of WGS has been revolutionary and is world-leading. The UK has the only nationalized healthcare system that provides WGS for everyone aged 0 to 25 suspected of having cancer.
The mean end-to-end turnaround time is 42 days, due to a combination of technical speed, available capacity, and logistics.
How could reducing the turnaround time impact young patients with cancer?
For children with cancer, key treatment decisions are often made within days of biopsy. Having access to genomic results sooner means they are available to inform these initial decisions, which can potentially direct patients towards targeted treatments, avoid some harmful treatments, or be eligible for clinical trials. In some cases in this cohort, WGS showed that patients did not have cancer at all and that other treatment pathways were more suitable.
What is rapid WGS?
"Details of the technology and software used in this feasibility study can be found in the Nature Communications paper. With regards to time savings, these included removal of DNA extraction and fibroblast culture for leukemia samples and library synthesis for all samples. Rapid WGS allows direct application of DNA or, in this study, crude lysate, onto the flowcell surface, providing both technical advantages and speed."
— Sean Humphray, Senior Director, Translational Research Group, Illumina
How else did the rapid WGS system enhance pediatric cancer diagnoses?
Details of the benefits are included in the published article and research paper. Notable changes included access to precision medicines, less invasive surgeries, reduced need for chemotherapy and, in some cases, non-cancer diagnoses.
How is the system currently being trialed within NHS England?
NHS England is supporting the Pediatric Cancer Genomic Network of Excellence, which will work with the NHS Genomic Medicine Service to roll out rapid WGS across England over the next two years.
How might this model work for hospitals that don’t have in-house NGS available?
The Pediatric Oncology Genomic Network of Excellence (NoE) aims to make rapid WGS equitably accessible for all children with cancer. It will be provided through the NHS Genomic Medicine Service (GMS) laboratories in Cambridge and Bristol. Referring GMSs and treatment centers will be able to send samples for sequencing to these centers, and receive results through the planned national weekly genomic tumor advisory board.
Part of the role of the NoE is to understand how to overcome the logistical challenges involved in sample transport between sites with the goal of still delivering results fast enough to inform those key early clinical decisions.
What's next for this research?
Besides national expansion, the NoE also aims to increase the clinical value of rapid WGS by seeking to incorporate DNA methylation analysis using 5-base sequencing, providing even more clinically relevant information to help improve diagnosis and treatment for children with cancer.
Newsletters
Receive the latest pathologist news, personalities, education, and career development – weekly to your inbox.
