Genomic medicine strategy 2024 to 2029

18. Research, Development and Innovation

Research, development and innovation

We aim to develop the genomic medicine service and infrastructure in such a way that research, development and innovation is built in and facilitated by design, and strengthens connections across the NHS, academia, industry, the third sector and citizens about research opportunities, needs and infrastructure.

Background

Scotland has academic, NHS and industry centres of research excellence with a wealth of knowledge and expertise in innovation in both genomic medicine and pharmacogenomics. The development of genomic medicine in Scotland has benefited enormously from collaboration across the sectors and, in particular, partnership working between Scottish universities and the NHS. This has been exemplified by the Scottish Genomes Partnership, the WES service and the CSO Precision Medicine Alliance Scotland programme. Scotland has established a number of resources supporting genomic research including SHARE and also participates in a number of important UK‑wide research initiatives including UK Biobank, and is supporting plans for Our Future Health.

Where we are now

While there are examples of excellent research, development and innovation in genomic medicine and collaborative working across Scotland as exemplified by the Scottish Genomes Partnership, there are opportunities to improve health outcomes through greater innovation and translation of research into clinical practice. The Chief Scientist Office (CSO) has funded a series of research projects under the Precision Medicine Alliance Scotland (see Case Study 19.2) including the i-Diabetes Platform led by NHS Tayside for enhanced phenotyping of patients with diabetes for Precision Diagnosis, Prognosis and Treatment. Genomic research is often an integral part of standard care, and not easily separated from clinical services. Within cancer care pathways, for example, patients who have exhausted all treatment options may have access to new experimental therapies via industry or academic clinical trials, while those with rare conditions can benefit from advances in genomic knowledge that may result in new information many years after they were originally tested. Patient-level and population-level genomic data needs to be accessible, securely and safely, to enable research and innovation that results in improved patient outcomes and better standards of care.

Where we want to be

We want a genomic medicine service that includes research and innovation at its core with clinical services directly informed by research, and clinical services also supporting research activity. Research roles should be included and recognised as an essential element. To do this, we want to ensure that genomic data can be integrated with registry and national data returns with a consistent consent model that supports research use of data. We also need to join up more efficiently with existing innovation adoption pathways to promote collaboration and research activity across the NHS, academia and industry, with effective use of translational spaces to better test and integrate innovation.

Integration of genomic data into national returns accessible for research

As described above, a key objective is to ensure that both patient-level and population-level standardised genomic data forms a national data return under PHS. We will work closely with Research Data Scotland (RDS), PHS and supervisory authorities to ensure the incorporation of genomic information within national and UK metadata catalogues and explore how best to streamline its use for research, development and innovation, with RDS and the Scottish Safe Haven Network acting as the gateway for research access.

Consent models and information governance

There are already established processes in place for the use of national health datasets held by PHS for population-based analyses. We will also implement a model whereby consent for use of patient-level genomic information to support research, development and innovation can be incorporated within genomic testing pathways. We will work closely with the SSNGM Patient Involvement Advisory Group, service users, RDS and supervisory bodies to understand what this would mean in practice and to identify needs and concerns. We need to ensure transparency around the security, privacy, ethical use and process for using genomic data in research by different partners. In doing so, we also recognise the need to work with communities across Scotland that have been under-represented in genomic research to build and sustain trust. We will also ensure research, development and innovation is incorporated into wider IG discussions around the uses of genomic medicine data solutions and digital infrastructure.

Translational spaces

Recognising the key role of innovation, and translation of research into clinical service, we will work closely with existing structures within Scotland to identify potential opportunities as part of horizon scanning and to develop projects identified by our genomic medicine services. The core infrastructure that we will support and engage with include Scotland’s end-to-end innovation pathway, consisting of three Regional Test Beds for mid-translational work and the Innovation Design Authority (IDA)’s Accelerated National Innovation Adoption (ANIA) pathway for innovation adoption. We also recognise the importance of working with academic centres, industry partners and organisations such as the CRUK Scotland Centre and the Living Laboratory for Precision Medicine particularly around knowledge exchange and the urgent need to support cancer testing for clinical trial targets and novel approaches to trial design and set-up.

Supporting clinical trial equity of access

Recognising the findings of the Equity of Access to Cancer Clinical Trials Short Life Working Group, we will work with colleagues across government, NHS Research Scotland (NRS) and other key partners such as experimental cancer medicines centres and the CRUK Scotland Centre on the recommendations for ‘genomically enabled’ clinical trials.^[31] Central to this is reducing geographical disadvantage for these clinical trials, by using a ‘Once for Scotland’ approach. This will include developing mechanisms for national approval and delivery of trials, that can then be available to all eligible patients in Scotland, irrespective of the coordinating centre. Another key focus of the group will be the identification, commissioning and adoption of new targets on a nation-wide basis to support and drive recruitment to research and clinical trials across Scotland.

Partnership working and joint job roles

Research and innovation, including translational work, is recognised as important to staff recruitment and retention within the NHS. Translational work is also of great interest within academia and industry. As part of our wider workforce modelling, we will explore ways to implement innovation and collaborate with academia and industry across the NHS to encourage partnership working, skills development, and knowledge exchange (as demonstrated within Case study 18.1.).

Collaboration around strategic aims

The SSNGM has a crucial role in supporting research, development and innovation in genomics and will work with stakeholders across Scotland to identify key priorities. We will work with the CSO to support, where possible, the identification of national and international funding calls where a national or collaborative approach could be used to support the strategic aims outlined within this strategy. We recognise that industry in particular has a key role in driving innovation within genomic medicine and we will look to work with industry to ensure that genomic medicine can thrive in Scotland in accordance with international standards.

18.1. Case study: The Whole Exome Sequencing (WES) service for early diagnosis of children with severe undiagnosed developmental disorders

The WES service was established for the accurate early diagnosis of infants and young children presenting with severe undiagnosed developmental disorders. The traditional diagnostic pathway (which can include a routine biochemical screen, a basic chromosome evaluation and other investigations such as MRI and muscle biopsy) is often delivered over a period of years and typically only leads to a diagnosis in <10% of patients.

The application of trio-based WES:

• Expedites patient diagnosis, often within an acute hospital setting which may improve prognosis (the likely course of a disease or condition)
• Offers an improved diagnostic yield (the likelihood of a test providing the information needed to make a diagnosis)
• Avoids a protracted care pathway involving multiple tests and treatments and the distress and inconvenience of iterative testing experienced by patients/families
• Provides accurate information for families on the risk of having another child affected with the same disorder. This can help families to decide if they would like pre-implantation genetic diagnosis (PGD) or prenatal diagnosis (PND)

The test amplifies all of the genes in the human body and detects between 45,000 and 50,000 variants per patient. This is then filtered against genes known to cause developmental disorders, by frequency, by consequence and then compared to the variants present in the parents in order to distil any causative variant/s that may be present.

The service started in July 2019 and since then 1032 patients have been tested. A diagnosis has been made in 30% of the patients with causative variants being detected in 279 different genes. The service also regularly re-analyses data if any improvements are made to the analysis pipeline or new causative genes are added to the gene list, which has resulted in another 8 families receiving an answer and a diagnosis for their child.

18.2. Case study: The Precision Medicine Alliance Scotland (PMAS) programme

The PMAS programme aimed to develop and deliver Precision Medicine approaches in the NHS to the diagnosis and treatment of conditions that disproportionately impact those living under difficult socio-economic circumstances across Scotland.

Following an open funding call and an independent expert review, four projects were funded in 2021 in critical care, diabetes, liver disease and multiple sclerosis (MS) with a total investment of £10 million over 4 years:

• TRAITS: Time-critical precision medicine for hospitalised adults with acute illness to efficiently generate evidence on patient-centred outcomes and support a programme of discovery (Professor Manu Shankar-Hari, University of Edinburgh/NHS Lothian)
• iDiabetes platform: Enhanced phenotyping of patients with diabetes for precision diagnosis, prognosis and treatment (Professor Ewan Pearson, University of Dundee/NHS Tayside)
• Centre for Precision Cell Therapy for the Liver: Using precise advanced therapies to target the liver to treat severe liver disease, reduce liver mortality and morbidity and the need for liver transplantation (Professor Stuart Forbes, University of Edinburgh/NHS Lothian)
• Precision-MS: Integrating precision metrics of brain health into early treatment of MS to help people make more informed treatment decisions about their disease (Professor David Hunt, University of Edinburgh/NHS Lothian)

What will this mean for people of Scotland?

Integrated, collaborative research that enables greater participation helps to realise the potential of genomic medicine for patients. The more that we participate in ground-breaking research, the more we can remain agile and adapt to the constant developments in genomics, and the more people stand to benefit from improved outcomes.