Achieving equitable access to genomic testing

12 September 2024 | Campaigning and research, Collaborations, Support

As a partner organisation working with The Tessa Jowell Brain Cancer Mission (TJBCM) we are delighted to share news that today they launch a landmark report setting out the future of genomic testing for patients with a brain tumour.

The report highlights that, currently, access to genomic testing is inequitable. Based on interviews with 41 professionals, it is estimated that fewer than 5% of eligible adult patients with a brain tumour are accessing certain tests. 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.

Whole genome sequencing explained

Whole genome sequencing (WGS) is a type of genomic test that looks at the DNA in a brain tumour. The tumour DNA is compared with DNA taken from the patient’s blood sample, to identify any changes (mutations) in the tumour’s DNA sequence. This can then be used to give the medical team more information about the tumour which can have multiple benefits including providing additional information about which treatments might be used to help them personalise a patient’s care.

Access to whole genome sequencing

NHS England has singled out brain tumours as one of the few conditions eligible to benefit from fully commissioned WGS, meaning that every adult patient in England with a brain tumour is eligible to receive this test (1).

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 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.

It 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.

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.

Dr Nicky Huskens, TJBCM CEO, explained: “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.”

Hope for progress

It also 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.

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.

She 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 frustrations over equal access are clear, as one patient advocate explained:

“For patients, it is really challenging to understand that on the one hand, WGS is meant to be available for everyone, yet most are not able to access this. With the median survival time being 12 months, participating in sequencing and potential trial enrolment is something so many patients would like to get access to.”

Brain Tumour Support CEO, Emma McKeown, expressed her determination to support the TJBCM in their call for a national effort from NHS leadership, NHS professionals, Genomics England, and brain cancer charities to jointly support the implementation of these recommendations.

Every day at Brain Tumour Support we are helping individuals and families who face stark statistics and a bleak prognosis and, whilst it cannot immediately change those outcomes, the potential of whole genome sequencing brings a powerful message of hope for the future. It is hope and progress that we believe every patient should be able to access, wherever they are in the UK.

The full TJBCM report can be read here.

(1) NHS England. National genomic test directory [Internet]. 2023 [cited 2023 Jul 20]. Available from: https://www.england.nhs.uk/publication/national-genomic-test-directories/

More information for patients about whole genome sequencing can be found on the FAQs page here.