The Tessa Jowell Brain Cancer Mission (TJBCM) launches a landmark report setting out the future of genomic testing for patients with a brain tumour.
The report highlights that today, access to genomic testing is inequitable: it is estimated that fewer than 5% of eligible adult patients with a brain tumour are accessing certain tests, based on interviews with 41 professionals.
Access to genomic testing is crucial to help with trial recruitment and better understand the condition, therefore the TJBCM is launching a call to action to support widespread adoption.
Each year, approximately 12,700 people in the UK are diagnosed with a brain tumour (1), and only 12% of adults diagnosed will survive more than five years (2). NHS England has singled out brain tumours as one of the few conditions eligible to benefit from fully commissioned whole genome sequencing (WGS), meaning that every adult patient in England with a brain tumour is eligible to receive this test (3). While patients can currently access all NHS-approved treatments without WGS, this testing is important as WGS can pick up “actionable” mutations and help identify patients who may benefit from clinical trials.
A team at the Tessa Jowell Brain Cancer Mission set out to explore the adoption and roll-out of WGS testing, to see if patients from different areas in the UK benefit from equitable access. The newly published report, cited today in Lord Darzi’s report (4), estimates that less than 5% of adult patients with a brain tumour were accessing WGS in 2023, with inequalities between different regions. The report sets out in detail why the number is so low, with challenges ranging from tests taking multiple months to complete, a high burden of paper work and limited knowledge around interpreting the extensive results.
Notably, the report also highlights that genomic testing is further behind in Scotland, Wales and Northern Ireland, when compared to England. The authors would like to work with the health boards and local leadership in these nations to ensure their patients are not left behind.
Jess Mills, Tessa Jowell’s daughter and TJBCM Co-Founder said: “For patients, WGS is vital to possibly finding life-extending or miraculously, life-saving treatment which is completely targeted to the drivers of their cancer. It is very hard to bear that access is currently so limited. WGS offers hope, which is essential for so many people who will currently have been given a year to live. We must do everything we can to unlock, and truly deliver this service for every patient. Mum eventually did access WGS – but by that point for her it was too late. I often wonder if she would still be here if we’d been able to access it as soon as she was diagnosed.”
Encouragingly, the report notes that there are exceptions, with several hospitals making excellent progress in delivering their WGS service. Valuable lessons learnt from these centres have been distilled and are shared in the report. Local success was typically owed to strong clinical leadership and local access to relevant clinical trials which acted as a motivator to deliver the testing service.
Dr Nicky Huskens, TJBCM CEO said: “The ambition to give all patients with a brain tumour access to WGS is unique in Europe. While the initial findings were not what we were hoping to see, the trend in the last two years has been upwards, which is encouraging. With the help of the professionals involved, we have been able to precisely identify the pain points as well as a set of achievable recommendations. Once embedded, coupled with the motivated neuro-oncology workforce in the UK today, I believe the NHS can further cement its status as a world leader in genomic testing and precision medicine.”
The report sets out a series of six community-backed actions to improve WGS adoption and unlock precision medicine opportunities for patients with a brain tumour in the UK. These will need to be adopted by the NHS, the charity sector and individual neuro-oncology centres. Recommendations include funding for additional neuro-oncology genomics coordinators to support the testing pathway, investment in genomics training and the establishment of a national ‘Brain Tumour Precision Medicine Board’, tasked with giving patients access to precision medicine initiatives. Importantly, the overall extra costs of these initiatives are estimated to be low.
For Professor Kathreena Kurian, a neuropathology professor and one of the lead authors of this report, increasing access to WGS testing is both a professional and a personal ambition. During the writing of this report, her husband Gerard was diagnosed with a recurrence of his brain tumour. Unlike most other patients, Gerard was able to access rapid WGS testing, which picked up a rare mutation. This enabled him to enrol onto a cutting-edge immunotherapy trial at The Royal Marsden, targeting his exact mutation. This gave their family hope and gave Gerard another year with good quality of life.
Professor Kathreena Kurian said: “For me, this report contains bad news and good news. The bad news is that right now not every patient gets access or gets their results fast enough. The good news is that there are very clear recommendations, and with the right support we really can do better. My hopes are that every patient with a brain tumour in the UK will get access. It is very, very important, and I am very, very hopeful for the future.”
The TJBCM is calling for a national effort from NHS leadership, NHS professionals, Genomics England, and brain cancer charities to jointly support the implementation of these recommendations, and the Mission stands ready to support.
Professor Richard Gilbertson, TJBCM Chair said: “The challenges highlighted in the report are not restricted to brain cancer. Thousands of patients with other cancer types could also benefit from genomic testing to guide their treatment and care. It is our hope that by streamlining genomic testing for brain tumours, we can generate learnings that will help patients with other conditions.”
The full report can be read here.
Patient FAQ
1. What is whole genome sequencing (WGS)?
Whole genome sequencing (often shortened to WGS) is a type of genomic test that looks at the DNA in your brain tumour, using a sample taken during your operation (if you are able to have surgery). The tumour DNA is compared with DNA taken from a blood sample, to identify any changes (sometimes called mutations) in the tumour’s DNA sequence. WGS is the most comprehensive form of genomic testing that is currently available and looks at the entire genome. A genome is the complete set of DNA that makes up our bodies.
The results from WGS testing may be used for some or all of the following:
- To further refine your diagnosis (the specific type of tumour you have) and prognosis (how your tumour might behave in the future).
- To provide additional information about which treatments may be the most effective for you and your tumour.
- To identify if you might be eligible for certain clinical trials, for example ones that use drugs that target a particular mutation your tumour has.
- To provide information on any inherited risk related to your cancer, and whether your family members may be at increased risk.
- To help researchers understand more about brain tumours, which could help patients in the future.
In summary, WGS testing gives your medical team more information about your tumour which could be (but not always) used to help them personalise your care.
Further information on WGS can be found here.
2. Am I eligible to receive WGS and what does this report mean for me?
The national genomic test directory outlines which tests are funded by the NHS in England and which patients are eligible to access these tests (3). According to the test directory in England, all adult patients with a neurological tumour can access WGS. Scotland, Wales and Northern Ireland have their own test directories, and the WGS service is not yet fully rolled out and funded in these countries.
As our Closing the Gap report describes in detail, the WGS service in England is relatively new, and hospitals are still establishing their processes in order to be able to deliver the test and report back on the results. Therefore, WGS testing is not easily available in all hospitals at present and test results may take some time.
Our report also found that while capacity is limited, the test can at times be prioritised for certain patient groups. You could therefore discuss with your oncologist or surgeon whether WGS is available, suitable for you and how long the test may take to report back.
The Tessa Jowell Brain Cancer Mission supports the increased adoption of WGS in the UK, so that in time, more patients may have the potential to benefit from personalised medicine.
3. I have not been offered WGS, should I be worried?
No – to date, all NHS-approved brain tumour treatments can be accessed in every hospital without WGS testing, so you should not be worried that you will be missing out on standard treatments.
4. I am interested in learning more about WGS and/or would like to support the roll-out of this test – where can I find out more?
There are a number of excellent brain tumour charities in the UK, who can provide further information and may be working with the UK governments to advocate for the roll-out of this test. These charities include:
The Genomics England website also has information on genomic testing and how patients can be involved in shaping the future of genomic testing.
Disclaimer: The information provided in this patient FAQ is intended for general informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read in this patient FAQ. In case of a medical emergency dial emergency services immediately. The information in this patient FAQ is provided “as is” without any representations or warranties, express or implied. We do not guarantee the accuracy, completeness, or usefulness of the information provided, and we disclaim all liability for any actions taken based on this patient FAQ.
1. Cancer Research UK. Brain, other CNS and intracranial tumours statistics [Internet]. [cited 2023 Jul 20]. Available from: https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/brain-other-cns-and-intracranial-tumours#heading-Zero
2. NHS England. Cancer Survival in England, cancers diagnosed 2016 to 2020, followed up to 2021 [Internet]. [cited 2024 Aug 19]. Available from: https://digital.nhs.uk/data-and-information/publications/statistical/cancer-survival-in-england/cancers-diagnosed-2016-to-2020-followed-up-to-2021
3. NHS England. National genomic test directory [Internet]. 2023 [cited 2023 Jul 20]. Available from: https://www.england.nhs.uk/publication/national-genomic-test-directories/
4. Lord Darzi. Independent Investigation of the National Health Service in England [Internet]. 2024 [cited 2024 Sep 12]. Available from: https://www.gov.uk/government/publications/independent-investigation-of-the-nhs-in-england
