Genomic medicine strategy 2024 to 2029

Our strategy for transforming genomic medicine across Scotland from 2024 to 2029.

6. Where we are now

Across the NHS in Scotland, a growing number of clinical specialties seek to use genomic information to guide diagnosis, prognosis and treatment with genomic medicine as a key component of precision medicine. Much of the demand for tests and technologies is driven by the development or licensing of new therapies, which require a genomic test, or improved knowledge about the best use of existing therapies for an individual’s genetic characteristics. Advances in genomic medicine worldwide are also driving changes within clinical guidelines and the classification of disease which can lead to clinically significant diagnoses and impact on clinical decision-making. There is also a corresponding demand from clinical teams, patients and their families for interpretation and guidance about the genomic information produced by testing to help guide decision-making.

In terms of laboratory capacity, Scotland currently has four human genomic medicine laboratories located in Aberdeen, Dundee, Edinburgh and Glasgow. These are commissioned as national specialist services and delivered through a multi-site distributed service model on behalf of all Health Boards by NHS Scotland National Services Division (NSS NSD). Each Health Board contributes to the funding of this service with additional funding provided by the Scottish Government.

In 2018, the Scottish Science Advisory Council was asked by the Scottish Government Chief Scientist Office to assess the development needs for genomic medicine in Scotland. Their report recommended a national strategic approach to core issues around infrastructure, workforce and research.[6] In March 2022, NSD published a Major Service Review of the four genomic laboratories with a set of recommendations, including the need for an over-arching national strategic approach to genomic medicine and a common data environment for the NHS laboratories to connect with each other, with clinical services and key national bodies such as Public Health Scotland (PHS).[7] The outputs from both reports have informed the development of this strategy and will continue to do so throughout its implementation.

The recommendations from both reports have implications not just for the laboratories but for the clinical services that they interact with and support. In addition to the commissioned laboratories model, there are four Regional Genetic Centres across Scotland, encompassing clinical geneticists and genetic counsellors, to help HCPs, patients and their families understand genomic information in the context of rare and inherited conditions.

The volume and breadth of work conducted within the genomic laboratories and genetic centres, however, has changed significantly over the past 10 years. Rapid advances in genomic research have identified more genes that cause rare genetic conditions, requiring genomic laboratories to move towards technologies that allow the testing and analysis of either larger numbers of genes through large gene panels, or clinical and whole exomes.

The workload of the laboratories is also increasingly dominated by cancer, with referrals for testing from pathology, oncology and haematology services increasing sharply. This increase in testing has resulted in an increased workload for our pathology, oncology and haematology workforce who need to help patients understand the genomic information generated, and accommodate the changes to service delivery that precision therapies demand.

“The number of new cases of cancer is predicted to rise by 33% between 2008-2012 and 2023-2027”

NHS Information Services Division Cancer Incidence Projects for Scotland 2013-2027 report.[8]

There is now an urgent need to develop, at pace, the testing capacity and workforce to manage not just the increasing demand for genomic testing, but the associated interpretation and analysis of genomic information with and alongside healthcare scientists, clinical geneticists, genetic counsellors and increasingly other HCPs from across a wide range of clinical specialties. This trend is part of a global shift in genomic medicine from a specialist service to a ‘mainstreamed’ component within the wider health and social care system with many more clinical specialties seeking to utilise genomic information.

Genomic medicine in Scotland has benefited hugely from partnerships between academia and the NHS, notably the Scottish Genomes Partnership which saw collaboration particularly around rare and inherited conditions across the Universities of Edinburgh, Aberdeen, Dundee and Glasgow, the NHS, Edinburgh Genomics and on the 100,000 Genomes project with Genomics England Ltd. These projects have resulted in important legacies in terms of knowledge generation and collaboration between NHS teams and academic partners, and we need to build on these and ensure that the benefits are not only available across Scotland, but are also adaptable to different clinical indications.

Scottish Strategic Network for Genomics Medicine

At the heart of this strategy is the Scottish Strategic Network for Genomic Medicine (SSNGM). The SSNGM was established in August 2022 to provide strategic direction and develop a ‘Once for Scotland’ approach to the planning, design and delivery of genomic medicine services and infrastructure across the whole patient pathway. The SSNGM is commissioned by Scottish Government and led by a consultant clinical scientist and lead clinicians both for cancer and rare and inherited conditions drawing together expertise from multi-disciplinary teams of HCPs across Scotland, with accountability to both the Scottish Government and NHS Board Chief Executives. Figure 2 shows the organisational structure of the SSNGM. As part of the SSNGM, the Scottish Government has also funded a team at NSD to accelerate the transformation of the delivery of genomics services across Scotland and action the recommendations of the Major Services Review concluded in 2022. The SSNGM will play a crucial role in implementing this strategy and working with stakeholders from across Scotland to ensure that our policies can become a reality.

Figure 2. Organisational structure of the Scottish Strategic Network for Genomic Medicine (SSNGM).
the Scottish Strategic Network for Genomic Medicine.



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