Genomics in Scotland strategy: business and regulatory impact assessment

4. Options

Option 1 – Implement Genomics in Scotland: Building our Future. A five-year national strategy (2024-2029).

The strategy aims to improve access to genomic testing and to build the strong foundations needed to allow Scotland to take full advantage of developments in genomic medicine going forward. Genomic testing in Scotland is currently not as comprehensive as services provided elsewhere in the UK. Health policy and NHS services in Scotland are devolved and some variation is to be expected but this position is not sustainable if services are not seen to be improving, and if there is no signalling of our intention to improve.

Given the current fiscal challenge the first-year implementation plan is focused intentionally on the foundational and preparatory work needed to ensure that investment and partnership working is targeted for maximum impact. Throughout the strategy we recognise the importance of embedding genomic medicine and genomic information within the wider national digital ecosystem to ensure that it can support access to genomically-enabled research and clinical trials, to support better insights and inform wider efforts to prevent or detect disease earlier. As part of this process, we need to engage with partners across Scotland in academia, the third sector and industry to best develop our data and digital infrastructure and expertise. Genomic medicine is a very fast-moving discipline and ensuring that new advances and innovation are embedded as quickly as possible is important.

The ‘Once for Scotland’ principle is also important to ensure that all patients across Scotland have equitable access to genomic testing and to the treatment and care it underpins, and to ensure that we use our limited resources as efficiently as possible by avoiding duplication.

Option 2 – Do nothing.

Failure to implement the strategy and the accompanying implementation plans would result in services in Scotland falling further behind those in the rest of the UK, with poorer outcomes for patients in Scotland as a result. It would further inhibit the ability of services to reform, transform and develop. This would prevent delivery and redesign of services and prevent investment in key areas of service that require it, with negative impacts on cancer outcomes and for those affected by rare and inherited conditions in the first instance. There is a risk that without national strategic direction, individual boards and regions will continue to progress genomic services through local prioritisation and in an uncoordinated way across Scotland. Genomics is also an area of huge scientific and economic growth and failure to engage with our life sciences industry and academic centres would represent a failure to capitalise and engage with a vibrant discipline and risk our ability to attract and retain the required specialist workforce.

Sectors and groups affected

Any person within the Scottish population who engages with services relating to cancer, clinical genetics, fertility, reproductive health, and services relating to the safe use of medicines.

Anyone in Scotland who engages directly or indirectly with genomic medicine services will be affected. This includes unborn children whose mothers are referred for Non-Invasive Prenatal Testing (NIPT) to elderly members of the population who may present with symptoms of cancer or other genetic conditions and are referred for genetic testing. In addition, this strategy impacts individuals who are indirectly impacted by genetic conditions, such as the family and friends of individuals who have received a diagnosis and healthcare professionals that are involved in their care and treatment. Lastly, the strategy potentially impacts the wider population where genetic testing can identify an increased genetic risk of disease.

Benefits – Option 1

Actioning the strategy through both the current and successive implementation plans will aid continuity, development, and improvement of genomic medicine services across Scotland. Equitable access to appropriate genetic testing will be available to everyone in Scotland, regardless of where they live. As part of the delivery of the strategy we want to demonstrate the impact of genomic medicine in terms of both patient outcomes but also savings across our healthcare system.

Benefits – Option 2

None. Failure to implement would result in poorer health outcomes. Facilitating greater data sharing and collaboration between the various laboratories and healthcare professionals will result in an increase of clinical hours to support patients directly. The potential savings available through repatriating some genetic tests which are currently sent outside of Scotland and avoiding unnecessary repeat testing or treatments which are ineffective or cause severe adverse drug reactions (ADRs) are thought to be significant.

Costs – Option 1

Investment in genomic testing, in conjunction with the development of robust national digital infrastructure, is essential to progress the objectives set out within this strategy. As outlined within the initial one-year implementation plan, scoping of the necessary digital infrastructure will be a key priority. We know from data generated from England and Wales that there are substantial efficiencies to be gained from investment in digital infrastructure and the adoption of more efficient forms of testing technology that are only cost-effective if adopted on a national basis with the ability to share and transfer data between laboratories. As demonstrated by other disciplines within Scotland, such as imaging diagnostics, this infrastructure can be built incrementally with the opportunity to demonstrate progress over time provided we have in place a clear roadmap to ensure that it is bedded into the wider national digital infrastructure. We are already working closely with colleagues in diagnostics and in the digital directorate to ensure alignment.

Advances in science and technology mean that costs of genomic testing are reducing globally, so this cost offsetting advantage is likely to grow, but this is only true if we embed the infrastructure early. Any delay to implementing this infrastructure is likely to put Scotland at a comparative disadvantage should we need to build testing capacity later.

Costs – Option 2

Failure to implement the strategy would mean that the benefits identified above in relation to option 1 would not materialise. It is important to acknowledge that this is not a cost-neutral option. For example, continuation of testing using outdated technologies and a lack of robust digital infrastructure represents an inefficient use of our specialist skilled workforce at a higher cost. We are also reliant on external laboratories to provide a significant amount of testing. Although in some cases this is sensible (for example, highly specialised services, ultra-rare indications) there are also areas in which there may be cost savings to supporting within Scotland.