Keeping pace with cancer:
Accelerating access to genomic testing
through the NHS Genomic Medicine Service
Executive summary
Speaking at the Conservative Party Conference in October 2018 the Secretary of State for Health and Social Care Matt Hancock announced that the NHS Genomic Medicine Service would start rolling out access to genomic testing for those with rare cancers and seriously ill children.
The Secretary of State noted that the UK was ‘leading the world, and I’m incredibly excited about this technology because of its potential to change lives for the better.’2 In the years since, the Government and NHS England have set out a series of national plans and strategies to increase the patients eligible to benefit from such testing, including cancer patients.
Nearly six years on there are positive signs that the number of genomic tests for cancer that are available and those being undertaken is increasing. For solid tumour cancers the number of tests on the National Genomic Test Directory has increased from 111 to 140 since 2021.3 Based on recent growth our analysis finds that the system can be expected to deliver 400,000 solid tumour cancer tests a year by the end of 2025.
The NHS has completed the first year of its new genomic medicine strategy, Accelerating Genomic Medicine in the NHS, and has put in place measures to address key enablers for change such as patient and public engagement, workforce training, regional networks of excellence and new governance structures to bring together the constituent parts of regional services.
However in making these strides, there are signs of a service, like the wider system it is in, under pressure. It is difficult to gauge an accurate picture of how such pressures are playing out both nationally and regionally given the limited data on the system currently published. Regional data on turnaround times for tests where available, anecdotal stories and media reports have though all highlighted some difficulties.
Part of this pressure is based on increasing innovation and the complexity of testing. The expertise of the Genomic Laboratory Hubs (GLHs) – where a significant amount of testing takes place – was primarily in rare diseases rather than in cancer and as innovation in genomic testing for cancer has expanded across singlegene, panel tests and whole genome testing the capability and capacity of the system has been stretched. More and more tests are being added to the National Genomic Test Directory, including updates ‘in year’, with local services not always equipped to deploy them; and there are variations in clinical pathways in when tests are being ordered. Workforce, data infrastructure and capital challenges are also checking rates of progress.
Such challenges comes with a clinical and patient cost. Delays to genomic testing for cancer, result in delays to diagnosis which in turn lead to poorer outcomes.
The next Government will face a plethora of challenges across health and social care but improving cancer services will inevitably be near the top of the intray. Increasing the capacity and the faster delivery of cancer testing to support improvements in diagnosis and treatment needs to be an immediate system priority.
This report argues for more investment in the NHS Genomic Medicine Service as part of a wider health system shift to prevention. Capacity can be increased by further scaling up GLHs and through better connecting the Genomic Medicine Service with local pathology services, and reforming contracting arrangements to enable greater flexibility and partnership on where testing is delivered. Building the clinical science workforce and new workforce models – supported by new technologies – can help increase capacity and improve turnaround times. More iterative and agile updates to clinical guidelines can help embed good practice on when genomic testing is used in cancer patient pathways and move to a ‘genomicsfirst’ approach to cancer testing. Better data on how the system is performing can improve transparency and drive investment and upgrades.
The science of genomic testing for cancer is moving quickly and public need is rising – the number of UK cancer cases is set to reach half a million by 2040 and UK cancer outcomes continue to lag behind other comparable countries. The work of the NHS Genomic Medicine Service is critical in helping us in keeping pace with cancer, saving lives and supporting a much needed shift to prevention; but to do so will now require concerted investment and prioritisation.
Recommendations
Recommendation 1: An annual multiorganisational horizon scanning exercise of potential genomic tests (including NHS England, NICE and MHRA) to be added
to the directory should be undertaken and published. The number of updates ‘in
year’ to the National Genomic Test Directory should be minimised where possible
Recommendation 2: NHS GLHs should be enabled to work closely with other local testing services to maximise cancer testing capacity and improve turnaround times. NHS England should explore new contracting and funding arrangements for increasing genomic testing capacity for cancer and to ensure Trusts and local services do not undertake such activity at their own financial risk. The UK Government will need to support such changes through providing the necessary resource for the service re-design and expansion of capacity proposed
Recommendation 3: By the end of 2024, NHS England should publish a Board level update on progress with the Genomic Pathology Accelerator Programme and the development of Cellular Pathology Genomic Centres and their impact on increasing genomic testing capacity and reducing turnaround times for tests
Recommendation 4: NHS England should publish a monthly performance dashboard for the Genomic Medicine Service covering data across the full range of genomic tests, including number of tests and turnaround times.75 This should be delivered as part of NHS England’s investment in data capability and also include qualitative feedback from those using the service including clinicians and patients. Services performing outside agreed performance levels should publish an agreed recovery plan with timelines for improvement clearly set 76
Recommendation 5: DHSC and OLS should publish a baseline report with agreed high level metrics assessing progress in implementing the Genome UK Strategy. This should include a set of metrics assessing the access of cancer patients to clinically beneficial genomic tests through the Genomic Medicine Service
Recommendation 6: Funding for the NHS Productivity Plan in the 2024 Budget should be used to upgrade the IT and data capability of the Genomic Medicine Service. Funding should also be assigned to support the effective evaluation and adoption of schemes piloting the use of innovative new technologies through the recently announced Genomic Networks of Excellence
Recommendation 7: Regional Genomic Networks of Excellence should ensure that they collect a range of data including economic impact data on the introduction of new innovations, such as automation and artificial intelligence, aimed at improving the operation of the Genomic Medicine Service to help support future investment cases with Government
Recommendation 8: NHS England should provide quarterly updates on progress in implementing the commitments in the health data strategy, Data Saves Lives. Where targets are missed or off track, actions should be set out for addressing the delays in their delivery
Recommendation 9: As regional workforce strategies and people plans are developed, the NHS Genomic Medicine Service and GMSAs should in partnership with the Royal Colleges and professional bodies ensure that workforce models within the Genomic Medicine Service are regularly reviewed and reflect the latest developments in the capability of digital technology and innovation. Such models should also support joined-up multidisciplinary working that maximises the capabilities of the existing workforce, such as biomedical scientists, around the needs of patients. UK Government should continue to invest in the healthcare science workforce through the NHS Long Term Workforce Plan
Recommendation 10: NHS England should publish quarterly feedback from participants on genomics training programmes undertaken through the Genomic Training Academy and annually set out how it is adjusting training programmes based on the feedback received
Recommendation 11: To improve the use of the National Genomic Test Directory and the application of genomic testing for cancer in care pathways, the Government and NHS England should publish data on performance against (a) the number of people accessing the GeNotes course and (b) the evaluation of the course as set out in the Genome UK Implementation Plan
Recommendation 12: NHS England should seek to collect data on when in cancer pathways genomic tests are being used. Initially each GLH should be asked to report back on where a small sample of tests from the Test Directory are being used in pathways to identify variation. Over time such information should be embedded within the NHS Genomic Medicine Service Dashboard. As part of its 1-3 year commitment on transforming cancer pathways to adopt genomic tests, NHS England should seek to co-ordinate the range of initiatives already under-way and work with key actors such as the medical royal colleges, professional bodies and NICE to ensure that guidelines for major cancer pathways are regularly updated to reflect the latest evidence on genomic testing.115 Over the three year timeline such work should have a set aim to move services closer towards a ‘genomics first’ approach to cancer testing
2 https://www.ukpol.co.uk/matt-hancock-2018-speech-to-conservative-party-conference/
3 https://www.england.nhs.uk/publication/national-genomic-test-directories/
75 The original commitment in the NHS Genomic Strategy was for quarterly reporting which is being delivered. Over time the ambition should be for monthly data to be published
76 Such discussions and plan development does take place between NHS England and relevant GLHs, but recovery plans should be made publicly available
115 Work is underway to do this through the Cancer Genomic Oversight Group, which is co-chaired by the NHS Genomics Programme and NHS Cancer Programme
This independent rwas sponsored by Johnson & Johnson and authored by Future Health. The views and conclusion in the report are those of Future Health and should be attributed as such. Future Health takes full responsibility for the content of the report and associated publications.