Genomics in Scotland: Building our Future Strategy Summary

6. Where will we focus?

To achieve our goals we need to expand access to genomic testing and, alongside this, build stronger foundations (our ‘building blocks’) for genomic medicine in Scotland.

Our building blocks to develop our genomic medicine service in Scotland.

• Whole system workforce and education
• Patient and citizen trust and engagement
• Ethical and legal frameworks
• Clinical pathways
• Pharmacogenomics
• Data and digital infrastructure
• National data returns
• Research, development and innovation
• Partnership working
• Future proofing

6.1 Prompt and equal access to genomic testing

We want to make sure that genomic medicine in Scotland supports diagnosis and access to the right care, at the right time, for the right person. Timely access to the right test will shorten the time people have to wait for their genomic results. This can lead to a treatment plan starting sooner and being able to improve people’s lives from quicker intervention.

6.2 Whole system workforce & education

Our workforce, those who staff NHS Scotland with their care, experience and knowledge, are our greatest asset. We need to support our workforce through training, clear career pathways and opportunities for development within the fast-moving discipline of genomic medicine.

6.3 Patient and citizen trust and engagement

As genomic medicine develops, we need to engage with people using services to take on board their lived experience and what matters most to them. Promoting person-centred care and resources will also help people know what options are available, what questions to ask and how to get the most out of services that are available.

6.4 Ethical and legal considerations

The safe and appropriate management and use of genomic information needs careful consideration so that people in Scotland can be confident that their information is being used securely and in ways that they have agreed with.

6.5 Clinical pathways

A clinical pathway is a checklist that includes all the steps that should be taken in a person’s care, by all the various healthcare professionals involved, to make sure care and treatment are given properly. We will work to understand where different clinical specialties are included in existing pathways, how additional supporting roles could improve the patient experience, and how care can be better co-ordinated across the NHS. Co-ordinating care helps everyone. Healthcare professionals from different specialties and from different parts of Scotland should be able to quickly share expertise and consider the whole picture of a person’s condition. People attending appointments may need to travel less and get more out of their appointments.

6.6 Pharmacogenomics

Pharmacogenomics is an area of scientific research that studies how a person’s genome affects how they respond to certain medicines and allows us to ‘target’ how we use these medicines to reduce side effects and improve treatment. Increasing people’s understanding of pharmacogenomics, and supporting its use across the NHS, will allow more people to benefit from treatment that can improve their lives, and promote the safe and more effective use of medicines.

6.7 Data and Digital Infrastructure

A data and digital infrastructure means having a way of safely storing people’s genomic information, and making it easier to share among the people who need to use it to improve people’s care within the NHS. It will also enable scientists and healthcare professionals to work together to get the most out of that information to improve people’s lives.

6.8 National data returns

Linking genomic information to existing national registries (for example the cancer and rare disease registries) and national health and social care information sets managed by Public Health Scotland will help us to understand the impact of genomic testing, and how effective genomic medicine is in terms of improving people’s lives. This can help shape decisions about where we need to invest in our health services. It can also help scientists and healthcare professionals to work together more easily, all of which will help improve our services and the care that people receive in Scotland.

6.9 Research, development and innovation

We know how important research is, so that services, care and treatment can keep improving and benefit from scientific discoveries and new knowledge. We want our genomic medicine service to enable and support research, development and innovation so that more people in Scotland can benefit.

6.10 Partnership working and future-proofing

An important part of this strategy is developing structures and partnerships across Scotland that are flexible to change as genomic medicine develops, and that allow us to offer more and more people access to the genomic testing that they need.