Genomic medicine strategy 2024 to 2029

5. Introduction

Genomic medicine, the use of genetic information (the instructions within our cells that shape a person’s health, growth and development) to inform medical care or predict the risk of disease, is transforming healthcare systems across the world.

As outlined in our Genomic Strategic Intent document published in March 2023, Scotland has a wealth of expertise and knowledge across our NHS laboratories and Regional Genetics Centres, academic centres and our thriving life sciences sector.^[1] The purpose of this five-year strategy is to set out our ambition to build on these foundations and develop a comprehensive, robust and scalable national genomic medicine service and associated infrastructure, and for this to support, as well as be improved by, research and innovation.

• Genomic medicine: the use of genetic information to inform and shape medical care or predict the risk of disease
• Genetics: the study of individual genes, genetic variation, and inheritance in living organisms
• Genomics: the study of all of a person’s genes (the genome) and how they interact with each other and the person’s environment

Genomic medicine is already used to determine diagnosis, prognosis and treatment within NHS Scotland, helping to guide clinical management and save people unnecessary and potentially harmful investigations and treatments in favour of therapies tailored to them as individuals. It has been used effectively for many years, particularly for people with rare and inherited conditions, to guide decision-making for them, their families and healthcare professionals (HCPs). Genomics is also transforming how we study, diagnose and treat cancer with cancer-related testing now the largest area of growth within Scotland’s genomic medicine laboratories.

We also know that genomic medicine has enormous value at a population level, when integrated with national clinical data, to help guide public health, service planning and policy decision making.

In 2024, Public Health Scotland (PHS) publish a Scottish Government endorsed Pathogen Genomic Strategy to consolidate and strengthen Scotland’s pathogen genomic services (concerned with the genetics and genomics of viruses, bacteria and other infectious organisms) as an integral component of public health.^[2]

This current strategy is focused on positioning genomic medicine, in terms of human genetic disease, to improve health outcomes for the people of Scotland by better characterising disease, improving how symptoms are managed, guiding the choice and use of different therapies and informing the risk of disease. It is complimentary to the PHS strategy in recognising the need to work as a cohesive community around key requirements, such as workforce, and in support of efforts to improve individual and population health outcomes.

We publish this strategy in the context of an NHS in recovery from the COVID-19 pandemic and an extremely challenging financial climate. Our approach throughout this document is guided by the principles of precision medicine and the need to ensure that genomic technologies can support diagnosis and access to the right treatment and management, at the right time, for the right person (as illustrated by Figure 1). In doing so, we need to ensure that Scotland’s genomic medicine service and infrastructure can support, by design, a person-centred and data-driven approach which enables people to make informed decisions about their health.

• Precision medicine (PM) aims to deliver prevention and treatment tailored to individuals’ molecular characteristics. Effective implementation of PM requires seamless integration of laboratory, healthcare data, and decision support systems.3

Genomic medicine is a fast-moving and dynamic discipline; to build and sustain the workforce that we need in five and ten years, to develop public awareness and the infrastructure required will necessitate both a very different approach and greater partnership working across the NHS, academia, industry and the third sector. This strategy outlines the direction needed to meet our immediate and most pressing needs, and is structured around the core building blocks required to allow the population of Scotland to benefit from advances in genomic medicine going forward. Within each section we will outline our current position and context before laying out where we want to get to. Throughout, we have endeavoured to explain what these aims mean for people in Scotland more broadly.

Our initial implementation plan will focus on the foundational and preparatory work needed, in collaboration with stakeholders across Scotland, to ensure that investment and partnership working is targeted to benefit those that need it most, and delivers maximum value as part of the ongoing recovery and renewal of our health services as a whole. Thereafter we will publish subsequent implementation and delivery plans, including the performance measures that we will use to monitor and assess our progress across the term of this current strategy.

“Healthcare is rapidly moving towards precision medicine, incorporating early diagnosis and prevention as a means of improving outcomes with access to more effective treatments earlier. It presents opportunities to adopt transformative innovations at scale to the NHS, improve care for patients and communities, create high value jobs and economic growth for Scotland.

Genomics is an important component of precision medicine and, as emphasised in this strategy, we realise the full potential of precision medicine only through the integration of laboratory and healthcare data into clinical decision making, and close collaboration across clinicians scientists, patients, healthcare providers and industry.”

Professor Dame Anna Dominiczak Chief Scientist for Health

The UK strategy Genome UK: The Future of Healthcare, published in 2020, and the UK Shared Commitments, published in 2022, set the direction of travel for the UK as a whole and we continue to learn from, and share with, counterparts from other parts of the UK.^{4, 5} We also look to the European and international genomics community to ensure that our national genomic information meets international data standards and can be integrated into wider collaborations, increasing the number of people in Scotland who benefit through enhanced diagnostic, prognostic and preventative capabilities.