Genomics in Scotland: Building our Future

Research and Innovation

Genome UK Vision: We will extend the UK’s world-leading position at the forefront of discovery-led and translational genomics research, continually expanding our collective genomics knowledge base. We will develop an ecosystem of world-leading secure genomics datasets, powering international research and supporting a seamless transition of impactful research findings into the healthcare setting backed up by robust implementation research programmes.

The development of genomic medicine in Scotland has benefited greatly from leading academic expertise in, and partnership working between, Scottish Universities and the NHS as exemplified by the Scottish Genomes Partnership. We want to continue to support collaborative research and innovation activities between the Scottish academic, NHS and life science sectors through continued investment by the Chief Scientist’s Office (CSO) research funding committees^[v] and fellowship schemes.^[vi] In addition, we are continuing to work with Our Future Health^[vii] to support Scottish participation in this ground-breaking research programme.

It is vital that the innovation and multidisciplinary networks fostered under the Scottish Genome Partnership,^[viii] and broadened during the Covid-19 pandemic, be built upon and strengthened in order to translate new developments into tangible benefits for Scotland as part of the wider recovery agenda.

Case Study: Response-mode funded research project - Liquid Biopsy

A team at the University of Edinburgh’s Institute of Genetics and Cancer have established a range of blood-based tests, known as liquid biopsy, which detect and monitor cancer DNA fragments shed by tumours into the blood stream in Oropharyngeal squamous cell carcinoma (OPSCC) patients.

Having recently established tests for which a positive result gives a 10-fold increased risk of tumour recurrence in Human Papillomavirus (HPV) associated tumours, this Chief Scientist Office (CSO) funded project now looks at the OPSCC group with the poorest outcomes (non-HPV tumours). The project will apply state-of-the-art DNA detection and sequencing technologies to analyse tumour-derived DNA fragments in the bloodstream, to follow treatment response and to develop new methods for detecting relapse and resistance to treatment in non-HPV OPSCC.

The tests for HPV-associated tumours are now being taken into the national HPV reference laboratory and the ultimate aim is that tests for both HPV-associated and non-HPV tumours can be translated into standard of care to improve the clinical assessment, and quality of life and overall outcomes for OPSCC patients in Scotland.

While we can take confidence from the progress to date, we also recognise the need for a transformation of the infrastructure and mechanisms to advance genomic research in Scotland, with a focus on the following areas:

• Storage, use and sharing of genetic data guided by the development of the NHS Scotland National Digital Platform.
• Development of a meaningful dialogue with stakeholders including patient groups, service users and the wider public about the wider implications of human and pathogen genomics.
• Working with industry to understand their research requirements, and how we can collaborate to mutual benefit.
• Improving the national research governance infrastructure to remove unnecessary barriers and allow an improved one nation approach to approving and conducting studies in rare disease and cancer.
• Development and promotion of innovation and a culture of translational research and knowledge exchange as an integral part of the genomic and bioinformatics workforce in Scotland.