This International Brain Tumour Awareness Week, we are drawing attention to a powerful tool in the fight against brain tumours – and the barriers to use faced by brain tumour patients.
Whole genome sequencing allows brain tumour patients to know the detail of the DNA within their tumour. By performing whole genome sequencing it can enable more accurate diagnoses, help to identify patients who could benefit from clinical trials and can reveal mutations that could guide personalised treatment plans.
Yet, despite its promise, a recent report highlighted a concerning gap: very few patients are currently accessing whole genome sequencing, even though every adult in England diagnosed with a brain tumour is eligible for this testing.
What is DNA and why is it important in tumours?
DNA is found in almost every cell in the human body and carries the genetic instructions that shape a wide range of characteristics, from our hair and eye colour to our blood type.
The complete set of genetic instructions is called the genome, and it determines how our bodies, organs and tissues function. Sometimes, mistakes can occur within a set of instructions which results in the wrong protein being made. Known as mutations, these mistakes can cause a cell to start multiplying uncontrollably or fail to die when it should, both of which can lead to cancer.
The science: The section of DNA that contains the instructions to make a protein is known as a gene. Genes account for approximately 1-5% of the genome. The rest of the DNA does not contain genes but has other important roles in regulating both genes and the genome.
What is whole genome sequencing?
Whole genome sequencing is a technique used by scientists and doctors to understand the unique make-up of the DNA in a tumour cell of an individual. By understanding where the tumour genome is different to the patient's ‘normal’ genome (typically a blood sample), it can help scientists and doctors to understand what mutations might be driving an individual's tumour development and growth.
There are different methods and technologies that can be used to conduct whole genome sequencing.
Why is it so important that whole genome sequencing is used for brain tumours?
- Improved diagnosis – classifying brain tumours more accurately leads to more precise diagnoses
- Informed treatments – more effective, personalised treatment strategies based on the genetic mutations that are driving an individual’s tumour
- Predictions of how tumours may behave – identification of common mutations in brain tumour subtypes could help doctors predict how a tumour is likely to behave
- New treatments – greater understanding of brain tumours will help discover new targets for therapies
- Clinical trials – help to identify patients who may be eligible and benefit from clinical trials
Does everyone have access to whole genome sequencing?
NHS England has identified that all adult patients in England with a brain tumour are eligible to receive whole genome sequencing.
In 2024, the Tessa Jowell Brain Cancer Mission (TJBCM) released a report titled ‘Closing the Gap’, which estimated that fewer than 5% of eligible adult patients with a brain tumour were accessing whole genome sequencing. Key drivers of the lower levels of uptake that have been identified include issues surrounding the scalability of implementing access to whole genome sequencing, system capacity and clinicians opting for targeted panels (which test for a curated set of genes known to be associated with a disease) which have faster turnaround times than whole genome sequencing.
The report also highlighted that genomic testing is further behind in Scotland, Wales and Northern Ireland, when compared to England. There is an urgent need to improve equity of access to whole genome sequencing across the UK.
What are we doing about it?
In September 2025, the challenges surrounding tissue storage led the agenda at the meeting of the All-Party Parliamentary Group on Brain Tumours (APPGBT), for which Brain Tumour Research provides the Secretariat. The meeting highlighted significant variation in access to genomic testing across the UK. This issue is a campaigning priority for Brain Tumour Research, aimed at ensuring the necessary infrastructure and resources are in place to enable equitable access to genomic sequencing to support improved treatment options and access to more clinical trials.
One reason for this inequity of access is that genomic sequencing requires a tumour tissue sample to be stored in a certain way, frozen using a method called flash-freezing. Professor of Neuropathology, Kathreena Kurian, and Andrew Wright from the TJBCM spoke on the need for all brain tumour patients to have their tumour tissue stored in an appropriate manner that would allow for the tissue to be sequenced following neurosurgery.
There is a ‘postcode lottery’ in access to care due to a lack of basic infrastructure like freezers for storing tissue samples and insufficient workforce capacity. These issues ultimately prevent many patients from accessing clinical trials that rely on genetic profiling.
There is a clear need for raising awareness about the importance of tissue preservation.
In the Devolved Nations
At the Cross Party Group (CPG) on Brain Tumours, for which Brain Tumour Research provides the Secretariat, held in June 2025, the meeting highlighted barriers that are currently blocking routine patient access to whole genome sequencing in Scotland. It highlighted that, in some cases, there is no access to whole genome sequencing because it is not routinely available through accredited NHS pathways, as it has not been commissioned as part of the Scottish test directory.
It was found that Scotland’s universities have the capability to perform genomic sequencing, however; this is currently not possible due to a lack of accreditation from the National Services Division (NSD).
Currently, genomic testing is provided by one of four NHS genomic laboratories that deliver a Scottish test directory for cancer. However, often genomic testing is outsourced, with a reliance on laboratories in London, as noted in the ‘Closing the Gap Report’. For example, paediatric patient samples are often sent to Great Ormond Street Hospital, London. Unfortunately, outsourcing the genomic testing can result in delays in receiving the results, which can have serious consequences for brain tumour patients and their treatment.
In Wales, genomic sequencing is also not currently a commissioned service.
Brain Tumour Research is committed to ensuring that every patient, regardless of where they live, has fair and timely access to whole genome sequencing, because equitable access is essential for more accurate diagnoses, informing treatment options and opening doors to clinical trials.
If you would like to help us ensure all brain tumour patients can access the medical services they need, you can keep up to date and get involved with our campaigning in England and the Devolved Nations. Click here to find out more.
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