Genomics in Scotland: Building our Future

Introduction

Genomic medicine allows us to use genetic information to inform medical care or predict the risk of disease and has the potential to transform healthcare in Scotland.

We have seen a heightened awareness of genomics through the COVID-19 pandemic and, as we recover, we need to harness the potential of genomic medicine (both human and pathogen). By doing so, we can build robust infrastructure and systems that provide access to the best possible care for patients within our NHS, drawing on and nurturing scientific expertise and innovation. Having an open and meaningful dialogue with service users and the wider public is essential if we are to do this.

Our Genomics Vision

• Improve the lives of people in Scotland, the quality of healthcare services and public health surveillance.
• Have the infrastructure, mechanisms and workforce required to capitalise on advances in genomic medicine.
• Make best use of scientific and clinical expertise in both human and pathogen genomics to translate research and innovation into clinical practice.
• Increase awareness and the benefits of genomics across Scotland so people can make informed decisions about their treatment and health.
• To work closely with our partners in Scotland and across the UK to ensure equity of care for patients and share best practice where possible in accordance with the Genome UK shared commitments.^[i]
• Motivate and accelerate Scotland’s thriving Life Sciences and Precision Medicine Sector and stimulate economic growth through the development and application of genomic technologies.

Scottish Strategic Network for Genomic Medicine

NHS Scotland’s genetic and molecular pathology laboratories are commissioned through National Services Division (NSD), part of NHS National Services Scotland. Services are delivered through four regional laboratories based in Aberdeen, Dundee, Edinburgh and Glasgow. These genetics laboratories previously collaborated through the Scottish Genetics Laboratory Consortium (SGLC) which has now been replaced by the Scottish Strategic Network for Genomic Medicine (SSNGM).

Established in August 2022, the aim of the SSNGM is to provide overall strategic leadership and oversight for genomics in Scotland. The Network structure allows us to draw on the body of expertise across Scotland in genomics to support the development and implementation of our Strategy (see Appendix 1: SSNGM structure).

A key area of priority for the SSNGM is implementing the recommendations from the NSD Major Review Report of Genetics & Molecular Pathology Laboratory Service^[ii] completed in March 2022. With funding from the Scottish Government, NSD has put in place a Genomics Transformation Team which is leading on the development and implementation of an action plan to transform our genomic laboratory services so they are fit for our future strategy.

Investing in our future

The recovery from COVID has coincided with a cost of living crisis and the war in Ukraine, all of which has contributed to an incredibly challenging public finance landscape.

We accept this is a challenge for the genomics community. Spending on genomics is often new and innovative with significant spending in the short term, for example, on sophisticated genetic testing. This testing can, however, lead to greater savings in the longer term through the earlier and/or more effective treatment of different conditions.

Measuring the health economics of genomic medicine continues to be an important part of our approach, providing an evidence base for the prevention of ill health as well as treatment for already established conditions in patients. As new testing and innovations become available we will flex and adapt our services to ensure we are providing the most efficient and value for money service for the NHS in Scotland.

Scotland’s Genomics Strategy

Genomics is a fast-moving and rapidly evolving field. This document is the first of three publications, and it sets out the intended direction of travel for genomic medicine in Scotland.

The second publication will be a five-year genomics Strategy for Scotland, developed in partnership with the SSNGM. The five-year timescale allows us to focus our work within the wider recovery agenda in Scotland and provides flexibility to adapt our approach as the field develops and new technologies emerge.

Finally, we will also publish an implementation plan for the Strategy recognising the need for rapid and accelerated implementation in several areas particularly for those living with cancer and rare diseases.

Over the next five years, the genomics landscape in Scotland will be transformed as we work to ensure that patients have equitable access to timely, personalised and high-quality genomic medicine for a range of conditions.