Genomics in Scotland strategy: business and regulatory impact assessment

2. Purpose and Intended Effect

Background

Genomic medicine is a rapidly developing discipline that uses genetic information (the instructions within our cells that shape a person’s health, growth, and development) to diagnose disease, guide the use of different treatments or predict the risk of disease. From a relatively niche specialism genomic medicine is now ‘mainstreaming’ with genomic information used to support diagnosis, treatment, and screening across a growing range of clinical specialisms with cancer care as the biggest area of growth.

In March 2023 the Scottish Government published a strategic intent document which outlined its commitment to the development of a robust national genomic medicine service. Genomics in Scotland: Building our Future is Scotland’s first genomic medicine strategy and complements Scotland’s first Pathogen Genomic Strategy published by Public Health Scotland. This is a five-year strategy which will be underpinned by consecutive implementation plans setting out the core actions across the strategy term. The first of these, for the year 2024-25, is published alongside the strategy.

Policy objectives

Our vision is to establish an equitable, person-centred, and rights-based genomic medicine service to improve health outcomes for people in Scotland and better enable us to use genomic information to support disease prevention and early detection. The strategy aims to improve access to genomic testing and build strong foundations, including data and digital infrastructure and workforce, to allow Scotland to take full advantage of developments in genomic medicine.

The initial one-year 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 for maximum impact as part of the ongoing recovery and renewal of our health services. This will take place in alignment with an ongoing transformation programme across Scotland’s genomic laboratories. Strategy implementation will thereafter be on the development of new approaches and systems to support genomic medicine in Scotland, taking advantage of innovation and digital opportunities to expand genomic testing and facilitate the use of genomic information across our healthcare system.

Throughout the term of the current strategy there will be a focus on rare and inherited conditions and on cancer. These represent the areas of most acute need in Scotland. However, as genomic information is ‘mainstreamed’ and applied to other clinical specialisms then the impact of infrastructure, service and workforce transformation carried out under the lifetime of this strategy will impact on the wider healthcare system and those who interact with it. As we work towards the integration of genomic medicine across our healthcare and digital ecosystem, we will also seek to demonstrate the impact of genomics on health outcomes and overall health service reform.

Delivery of this strategic ambition will be interdependent with a range of other plans in health and beyond, including:

• NHS Recovery Plan (2021)
• National Workforce Strategy for Health and Social Care (2022)
• Digital Health & Care Strategy (2021)
• Rare Disease Action Plan (2022)
• Cancer Strategy for Scotland 2023-2033
• Health and social care: data strategy (2023)

Rationale for Government intervention

In March 2022, NHS Services Scotland (NSS) National Services Division (NSD) published a Major Service Review of the four genomic laboratories in Scotland, with a set of recommendations including the need for an over-arching national strategic approach to genomic medicine. This was preceded by a report by the Scottish Science Advisory Council in 2019 which recommended a Scotland-wide approach to best support the development of genomic medicine in Scotland. If access to genomic testing and the benefits of genomic medicine in Scotland is to be equitable compared to the rest of the UK and other developed nations, then a more strategic approach to the transformation of existing services and our future development is needed.

We publish the strategy to provide direction for those who work in genomic medicine and allied disciplines in Scotland. It is important that Scottish Government sets out priority areas for genomic medicine across Scotland to make the best use of existing resources and provide clarity for decision makers to best realise the opportunities available through the advances in genomics.

Improving genomic medicine in Scotland is important in meeting our National Outcome that we are healthy and active, supporting timely diagnosis, treatment, care and targeted screening for people. Developing genomic medicine specifically is likely to assist with other national outcomes, particularly that we have a globally competitive, entrepreneurial, inclusive and sustainable economy; we are well educated, skilled and able to contribute to society; we have thriving and innovative businesses, with quality jobs and fair work for everyone; we respect, protect and fulfil human rights and live free from discrimination; and we are open, connected and make a positive contribution internationally.