Genomics in Scotland: Building our Future

This publication sets out our intention for genomic medicine in Scotland.

Cross Cutting Themes

Patient and Public Engagement

Genome UK Vision: We will build and maintain trust in genomic healthcare with patients, the public and NHS workforce, ensuring that they are involved and engaged in how we design and implement genomic healthcare, including the use of data and ethical considerations.

Our biggest priority in all this work is patients. As part of our person-centred approach, we will partner with patients, families, charities and other representative groups to establish a patient panel as part of our Network to ensure that patient needs inform the development, monitoring and delivery of services. Increasing awareness and engagement in this way will allow patients to make informed choices about the services they use and provide reassurance to the wider public.

Public Health and Pathogen Genomics

The formation of the SSNGM and the work to deliver a genomics strategy for Scotland is a chance to assess the continuing development of both human and pathogen genomics and how these areas can complement each other to provide maximum benefits for patients and wider public health, potentially as part of a wider ‘One Health’ approach. Public Health Scotland and collaborative partners across Scotland are already demonstrating the value of genomics in managing individual cases of disease and wider surveillance activity (see case study below). We also want to build on the successful multidisciplinary partnerships built around sequencing for Covid-19 to ensure that we sustain and nurture this expertise.

Case Study: Speeding up diagnosis and treatment management decisions for Tuberculosis (TB) using whole genome sequencing

Since February 2022, Scotland’s Mycobacteria Reference Laboratory in Edinburgh has used Whole Genome Sequencing (WGS) to sequence M. tuberculosis, and other Mycobacterium species that cause disease.

Using this single test, they have improved the turnaround time to a matter of days whereas this was previously 4 – 6 weeks for both information on diagnosis and antibiotics susceptibility. This helps to ensure that the right antibiotics are prescribed more quickly thus allowing patients to recover faster and, by reducing the number of ineffective courses of antibiotics, limiting the opportunities for antibiotic resistance to develop. The information from WGS also provides high-resolution genotyping that can identify closely related strains that potentially come from the same source.

This level of detail that WGS provides goes beyond what was previously available to trace the transmission of TB. It is being used by public health teams to track the transmission of TB, the spread of drug-resistant strains and to guide the investigation of outbreaks.


Genome UK Vision: We will support the NHS workforce, academia and industry workforce to develop and acquire the necessary scientific and clinical skill sets and understanding of genomics, including bioinformatics. We will support the workforce across all sectors to communicate about genomics in an accessible way. We will prioritise workforce and training in spending and policy considerations. We will implement a framework of skills across the sectors, identifying the major skills shortages in each and propose new ways of training to keep up with demand. We will develop clinical pathways and standards of care that fully incorporate the latest genomic testing and results.

The experience of Covid-19 has emphasised the importance of the NHS and the people who work within it, including those working in laboratories and other clinical support roles the length and breadth of the country.

We will work to support the necessary planning, training and development of both new and existing NHS staff to allow them to deliver a service that keeps pace with developments in the field, recognising that improved testing and patient pathways will impact upon the requirements for clinical staff. In particular, we will consider how we embed a bioinformatics workforce within our infrastructures.

We will also look to plan and encourage our future workforce, working with Universities, Colleges, schools and others to encourage uptake of Science Technology Engineering and Maths (STEM) subjects and position a career in healthcare science, including genomics, as an attractive ambition for young talent.


Genome UK Vision: We will standardise the way we record and store genomic, phenotypic and healthcare data to support the use of advanced analytics in both care and research and to ensure that a patient’s genomic data can repeatedly inform their care throughout their life.

Through our Research and Innovation pillar we are already committed to developing a Scottish genomic data repository that will join up the four Scottish NHS genetics laboratories, encourage greater connectivity and allow secure storage and sharing of genetic data to support diagnosis and care of patients.

Access to genomic testing, and the ability to safely and securely share and interpret data can also open up opportunities for patient treatment, including through clinical trials. We intend for Scottish genomic data to be used to support patient access to clinical trials across cancer and rare diseases. We will consider how we can develop the necessary infrastructure, processes, and skills to enable the use of genomic data in alignment with Scotland’s first Data Strategy for Health and Social Care.[ix]

Industrial Growth

Genome UK Vision: We will make the UK the best location globally to start and scale new genomics healthcare companies and innovations, attracting direct investment in genomics by the global life sciences industry and increasing our share of clinical trials in the UK.

Scotland has a thriving life sciences economy, which employs 41,700 people across over 700 organisations. We want Scotland to be internationally recognised as a world leader in genomics, attracting researchers, small and mid-size enterprises, and industry to our country.

Scotland has gained momentum in pharmacogenomics in the last few years led by the Scottish Pharmacogenomic Working Group and drawing upon expertise from across Scotland’s industry, academia, and government.

Scottish Enterprise will work closely with industry to align with the ambitions of the Life Sciences Strategy for Scotland and will engage with the Life Sciences Scotland Industry Leadership Group, the Scottish Health Industry Partnership (SHIP) and other industry groups to align the work of our network with our Innovation Pipeline and Accelerated National Innovation Adoption (ANIA) Pathway to encourage growth and drive innovation.


Genome UK Vision: All our genomic data systems will continue to apply consistent high standards around data security and the UK model will be recognised as being the gold standard for how to apply strong and consistent ethical and regulatory standards that support rapid healthcare innovation, adhere to legal frameworks, and maintain public and professional trust.

The handling of an individual's personal data, in this case genomic data, raises a number of ethical considerations, such as how to store data securely over time, how and when it would be appropriate to share such data, and with whom. Early engagement on the wider ethical issues associated with genomics will form a core part of our strategy, with efforts to engage with patient groups, the wider Scottish public and centres of expertise in bioethics and data governance.

We are also aware that the majority of current genetic datasets are skewed to reflect people with predominately white western European ancestry. We intend to work with others to increase representation of hitherto under-represented groups with a view to building genomic datasets that are reflective of the population we serve.

Our patient panel and wider public engagement and participation efforts will be critical to making advances in this area whilst ensuring that our regulatory and ethical frameworks support rapid healthcare innovation and are both understood and accepted.

Environmental impact

The Scottish Government recognises environmental impact as a priority across all of our policies. The evidence of a global climate emergency is irrefutable, and to tackle this emergency we need the public and private sector to take action to slow and adapt to the effects of climate change as set out in our updated Climate Change Plan and Scottish Climate Change Adaptation Programme (SCCAP).

Scotland has made great progress on our journey to net zero and in August 2022 we published the NHS Scotland climate emergency and sustainability strategy: 2022-2026,[x] but there is more to do within the genomic medicine service to reduce harmful environmental impacts. We will learn from examples (see case study below) to ensure the transformation of our genomics infrastructure supports our climate change agenda.

Case Study: Q2 Solutions MyGreenLab certification

Q2 Solutions, a wholly owned subsidiary and laboratory division of IQVIA, has recognised the impact that laboratories have on the environment and have set out several commitments publicly, as part of their Environment, Social and Governance (ESG) programme, to reduce the impact on the communities they operate in globally. This includes a commitment to become a net-zero business via the Science Based Target initiative (SBTi), with the target to be published by end of 2023. This will align Q2 Solutions business operations with the Paris Agreement from COP 21.

In 2021, Q2 Solutions enrolled their Livingston laboratory in Scotland on to the My Green Lab Certification programme. This certification programme is recognised by the United Nations Race to Zero campaign as a key measure of progress towards a zero-carbon future and is considered the international gold standard for laboratory sustainability best practices. To successfully gain certification the requirement is to reduce a laboratory's environmental impacts across a variety of categories including energy, water, and waste.

Some of the initiatives Q2 Solutions have implemented since this programme was launched include energy saving programmes around laboratory equipment and -80 freezers, a new glass recycling programme to divert glass waste away from incineration and work with key suppliers to reduce packaging waste.

As it stands today, Q2 Solutions has 71 My Green Lab Ambassadors trained on the Livingston site as part of a laboratory operations teams whose role it is to initiate projects to drive sustainability improvements. The Livingston laboratory achieved certification in November 2022 with all other Q2 Solutions laboratories globally aiming for certification across 2023-2024.

Q2 Solutions are proud of these achievements to further increase sustainability in their laboratory environments and are committed to embedding sustainable practices across business operations globally to continue safeguarding the planet.



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