Our rapid whole genome sequencing (WGS) study showed how earlier access to genomic insights could inform care for children with suspected cancer. It also provides the foundation for a national Genomic Network of Excellence. Established in June 2026 with support from NHS England, the network has the core aim of providing national equity of access to all children with cancer.
The need for speed in cancer diagnosis
When a child presents with suspected cancer, decisions about investigations and treatment often need to be made within days. Genomic information can help establish the diagnosis, identify treatments and reveal inherited cancer predisposition. As such, receiving genomic results within a matter of days – rather than the six weeks that is currently standard – has great potential to inform treatment decisions and improve outcomes.
The clinical timescale was the starting point for our study, Rapid Whole Genome Sequencing Enhances Pediatric Cancer Diagnosis, now published in Nature Communications. It has also shaped the next stage of our work by taking the approach developed in Cambridge and translating it into a national programme through the NHS Genomic Medicine Service.
WGS examines DNA across the genome, allowing many different types of genetic change to be considered together and translated into clinical benefit. England has already made a substantial commitment to this approach by making WGS available through the NHS Genomic Medicine Service for all children (age 0-24 years) with suspected cancer.
Currently, WGS results can take several weeks to return; typically after important diagnostic and initial treatment decisions have already been made. We wanted to find out whether it could be possible to make comprehensive WGS results available to clinical teams early enough to inform those decisions.
Faster genomics can improve cancer care
The Cambridge Children’s Innovation Hub, where our study was conducted, brought together clinicians, clinical scientists and researchers at Cambridge University Hospitals NHS Foundation Trust, the University of Cambridge and NHS East Genomics, working with industry partner Illumina. Through this powerful collaboration we developed and evaluated the streamlined sequencing and analysis workflow, which was trialled in our study involving 54 children with suspected or confirmed malignancy, including children with leukaemia, brain tumours and other solid tumours.
Within our study based at Addenbrooke’s Hospital in Cambridge, we were able to reduce the average time between when samples became available and when a clinically interpretable report is available from 42 days with the current, established NHS WGS pathway to three days with rapid sequencing.
The rapid method also showed excellent coverage of the genome, detecting 95% of all the clinically actionable genetic variants that can be identified through slower, more detailed methods.
These results were not achieved simply through changes to DNA sequencing protocols but required changes throughout the WGS pipeline including laboratory and analysis workflows. For example, our approach removed the need for a separate library preparation step, and some blood and bone marrow samples could be analysed without needing conventional DNA extraction, in this specific study. Streamlined analysis helped translate the sequencing data faster into findings that clinical teams could use.
Of the 54 children in the study, 35 samples were analysed prospectively and clinicians reported benefits to care in 17, including earlier diagnostic clarification, more precise risk assessment, access to targeted treatment and avoidance of unnecessary procedures or treatment escalation. In two children presenting with soft tissue lesions, rapid genomic findings established non-malignant diagnoses and helped them to avoid invasive procedures associated with cancer treatment.
Scaling up to deliver faster results nationally
We are now building on this study to establish how the same results could be delivered at-scale, nationally through the NHS England Genomic Network of Excellence: Equitable access to Rapid Whole Genome Sequencing for Children and Young People with Cancer.
The two-year programme extends our work to all children and young people aged 0–24 with suspected cancer across England. By bringing together genomic laboratories, cancer treatment centres, academic researchers, industry and patient representatives, our aim is to reproduce the results achieved in Cambridge across different hospitals and laboratory settings to provide equitable access to rapid molecular diagnostics for all children with cancer.
While our single-centre study established feasibility and suggested clinical utility; the national programme will evaluate reproducibility, scalability and cost-effectiveness.
Enabling faster sequencing at a national level presents several additional challenges, including reliable sample transport, timely analysis, clear reporting and access to the right expertise. The programme therefore aims to evaluate the entire pathway, including the points where delays arise. Initially the method will be implemented at two sites nationally (East and South West GLH) with rapid transport from clinical sites across England providing key support for the network.
As part of the network, a national virtual Genomic Tumour Advisory Board (GTAB) will bring together expertise to support clinical teams by rapidly interpreting findings, assessing their implications for care and identifying relevant clinical trials. It will also provide a forum for shared learning, helping teams across the country build confidence and experience in analysing complex genomic results.
Not just bigger, but better
In addition to building on the existing research, we will seek to expand on the capabilities of rapid WGS to provide further relevant clinical insights through methylation sequencing. The Innovation Hub will also become the site for 5-base sequencing within the Network of Excellence, combining analysis of the genome and DNA modifications known as methylations in a single assay.
The addition of DNA methylation, is expected to be particularly valuable in identifying additional relevant genetic variants across several cancers, including brain tumours and sarcomas to help classify tumours. This extends the Hub’s contribution from enabling the original rapid sequencing study to evaluating the next generation of molecular diagnostics for the national programme.
Making faster genomics equitable for young people with cancer
Participants in the Network of Excellence will continue to receive standard diagnostic testing alongside the new genomic methods, allowing for direct comparisons. In addition to accuracy and turnaround time, the programme will examine clinical utility, resource use and patient and family experience. These findings will help determine whether rapid genomics can simplify diagnostic pathways and provide sufficient value to support routine NHS adoption.
Our work began with a clinical question about how quickly genomic results could inform care and has developed into a national programme focused on equitable access. This progress has depended on patients and families participating in research, charitable and research funding, and collaboration across the NHS, academia and industry.
For our team, the next measure of success is whether the approach can deliver timely, useful answers consistently across the NHS. The ambition is that all children and young people will have genomic information available when their clinical teams are making those key early decisions and can help give children with cancer the best chance of recovering.