Genomic medicine strategy 2024 to 2029

19. Future-proofing our service and building capacity

Future proofing

Throughout this strategy we have referred to the importance of putting in place robust building blocks on which Scotland’s genomic medicine service can develop and innovate. We need to ensure, as far as possible, that these foundations are future-proofed and scalable by design to allow us to expand and enhance Scotland’s genomic capability at pace and work towards an integrated genomics ecosystem that can best improve patient and population health outcomes.

Background

In each of the sections we set out our ambition for critical infrastructure and identifed the underlying components and harmonisation work that we need to establish as key enablers for genomic medicine in Scotland. Running in parallel with these efforts we need to optimise and build capacity across our laboratory infrastructure and change the funding models underpinning this activity.

Where we are now

Our genomic laboratories, consisting of four laboratories based across Scotland, were inspected as part of an NSD Major Service Review published in 2022. The review concluded that, while each laboratory delivered a high-quality service for NHS Scotland, the organisation of the laboratory network as a whole was no longer fit for optimal service delivery and that change was needed to support the laboratories to expand.

Within current commissioning arrangements, the Scottish genomic laboratories are categorised as specialist services. Through these arrangements we have seen considerable investment both from Health Boards themselves as well as the Scottish Government directly. Current arrangements are based on a point in-time assessment of the demands of genomics services which can, however, hinder their ability to account for future growth and expansion. We also know that our current model is not able to take full advantage of national partnership opportunities across academic, industry and the third sector because of the way in which they are both commissioned and structured.

Where we want to be

We want to build sustainable and scalable infrastructure able to adapt to the rapidly evolving discipline of genomic medicine. As part of these efforts, we want to build capacity across our laboratory network to optimise service delivery, develop our capability around changing genomic technologies and develop robust financial models able to support and sustain this change.

Capacity building

We will embed genomic medicine into clinical pathways so that capacity is built holistically across a number of clinical specialties. We will seek to develop an infrastructure that will deliver now and allow growth with the advances and innovations anticipated over the next 10 years and beyond. This means considering novel and innovative solutions to build capacity within the term of this strategy.

Working with the SSNGM, NHS Board Chief Executives and the genomic laboratory network, we will identify ways to optimise our laboratory delivery model, ensuring we are utilising the expertise and infrastructure we already have in place to deliver a scalable, cost-efficient genomic service. This will include considering how we take advantage of Artificial Intelligence (AI), digital solutions and opportunities available to us outside of our current NHS delivery models and in collaboration with partners across academia, industry and the third sector.

Next-generation sequencing (NGS) panels

A key priority for cancer service delivery is the expansion of NGS panels and the use of more comprehensive, larger gene panels. Working with the SSNGM and the laboratory network, we will support the development and validation of NGS panels to enhance cancer testing services. In doing so, we also need to develop and appropriately resource processes to allow for the regular review and revision of panel targets, to align with best practice and remain agile in the context of a fast-paced research environment.

Development of whole genome sequencing capability

We recognise the importance of using and developing the most up-to-date genomic technologies and we will develop our testing strategies and clinical pathways to accommodate these, including whole genome sequencing (WGS). It is important that we develop both our capability and capacity to ensure that we can be agile in adopting new and more effective technologies at the earliest opportunity, and translating these into clinical care where there is clinical benefit.

Fostering collaborative partnerships

We have already acknowledged the importance of proactive horizon scanning to allow us to plan services that are agile and responsive to change. To do this, we must foster collaborative partnerships across the NHS and bodies such as NES and Health Improvement Scotland, with academia, the third sector and industry. We have seen many examples of the benefits of academic collaboration on genomic medicine throughout the UK in developing services and technologies that benefit patients and families. While in Scotland we have benefitted from academic partnerships, we recognise that we need to strengthen our relations with industry as key stakeholders within genomic medicine and develop a systematic approach to matching service needs with industry offerings. We will work to build partnerships with different stakeholders for the benefit of the people of Scotland while ensuring transparency and the principles of providing value for our public services are maintained.

Funding and Commissioning

Genomic medicine is no longer a specialist service and is core to the delivery of our wider health services. The growth of genomic medicine requires a funding model that can react quickly, ensuring that new tests approved through our SGTAG process can be funded and implemented to benefit patients in a timely manner.

The current commissioning model however does allow us to take a ‘Once for Scotland’ approach to the delivery of the genomic medicine service. We will implement alternative funding models which sustain the national approach our services have already benefitted from and which are tailored to genomic technologies. We will develop a structure which allows the continued investment from Health Boards as well as the Scottish Government, but look to also include partners that can support and enhance the capacity of our services. We want to develop services which are not only equitable across the UK but are internationally renowned.

Environmental sustainability

The climate footprint of healthcare globally in 2021 was estimated to be 4.4% of the global net greenhouse gas emissions (around 2 gigatons of carbon dioxide equivalent).^[41] If it was a country, this would make the healthcare sector the fifth largest emitter on the planet. Genomic medicine’s contribution to this is significant: through sample shipment and processing, laboratory management, biobanking, data use and storage. There is significant scope for change. Pharmacogenomics, for example, has the potential to reduce wastage of medicines and reduce hospital admissions relating to adverse drug reactions and represents a significant opportunity to reduce the environmental impact of medicine use. As we develop the building blocks of a national service and infrastructure, there will be opportunities to build in sustainability by design and learn by linking in with existing efforts.

NHS Scotland recognises the need to reduce the environmental impact of its operations with a Climate Emergency and Sustainability 2022-26 Strategy aiming for NHS Scotland, as an organisation, to reach net zero by 2040.^[42] Overall progress across NHS Scotland is assessed annually using the National Sustainability Assessment Tool (NSAT). As part of this five-year genomic medicine strategy we are committed to assessing the climate impact of our services and infrastructure and seeking ways to mitigate this impact, looking at examples of best practice across the NHS, academia and industry, and engaging with current initiatives such as the Laboratory Efficiency Assessment Framework and My Green Lab certification.

What will this mean for people of Scotland?

Having structures in place that are agile, able to respond to developments and build capacity will ensure that more people in Scotland benefit from the advances in genomics in the years to come. This ensures we are taking a true ‘Once for Scotland’ approach where patients can access appropriate testing and treatment regardless of their Health Board area.