Genomics in Scotland: Building our Future

Prevention

Genome UK vision: We will use genomics to accurately predict the risk of chronic diseases and our national screening programmes will use genomics to identify at-risk populations.

Genomic medicine has great potential not only in the treatment of an individual who has been diagnosed with a condition, but also identifying healthy individuals at higher risk of developing a condition and taking early and evasive action. It can help us to understand more complex, multiple gene interactions, as well as the interactions between genes and the environment and can help develop new methods for diagnosis, treatment and sometimes even prevention of conditions.

This is primarily done through screening. While not all screening will take the form of a national screening programme, we will collaborate with the Scottish Screening Committee which is aligned to the UK National Screening Committee.

In January 2023, the First Minister set out the pressures facing the NHS in Scotland and the need to relieve the burden on our hospitals. To do this we must take more of a proactive and preventative approach to health. Genomic medicine has a key role to play in managing the pressures faced by our NHS. It allows health conditions to be predicted before they become prevalent through the use of testing for predisposition to certain conditions to then allow us to prevent ill health before requiring Primary Care input or hospitalisation. Genomics also allows us to apply precision medicine to patients who are already ill in order to inhibit further side effects from medications or, depending on a person’s genetic makeup, utilise precision medications for maximum effect.

To support our approach to prevention our Strategy will cover how we:

• Enable NHS Scotland to move from diagnosing and treating conditions once symptoms are prevalent to utilising genomics to predict and prevent ill health.
• Work with the Scottish Screening Committee and National Screening Oversight to understand how we can best link with national screening programmes that use genomics in order to provide interventions to those with increased risks.
• Support the development of pathways to identify those at a higher risk of disease ensuring follow up and treatment pathways are in place.
• Work closely with the Pathogen Genomics Oversight Group (PaGOG) and the pathogen genomics community to expand our understanding of pathogen genomics, especially in relation to Infection Prevention and Control (IPC) and antimicrobial resistance (AMR)
• Maintain engagement with Genomics England Ltd on the roll out of their Newborn Screening Research Project and consider opportunities for interaction and shared learning which can be applied in Scotland.
• Consider the expansion of Scotland’s existing Non-Invasive Prenatal Testing (NIPT) and Preimplantation Genetic Testing (PGT) programmes for inherited conditions to take account of new and advancing technologies.