Genomics in Scotland strategy: Fairer Scotland Duty summary

Summary of evidence

The focus of the strategy is on rare and inherited conditions and cancer, as the two areas of greatest need in Scotland. However, as genomic testing and genomic information is used within a growing range of clinical specialties and services then genomic testing can potentially impact on anyone in Scotland.

Rare and inherited conditions cover a very wide range of different conditions. Most (an estimated 80%) are genetic, and the majority (an estimated 75%) affect children and infants. The economic impact of rare and inherited conditions on affected individuals, their families and caregivers are substantial and can, in the absence of adequate treatment, care or support, exacerbate deprivation.^[1] Genomic testing is an important tool in shortening the so-called ‘diagnostic odyssey’, the length of time taken to find a diagnosis, and enabling access to support and care services.^[2] It can also enable access to treatment and inform wider decision-making around family planning.

The latest cancer incidence and cancer mortality in Scotland data published by Public Health Scotland shows that overall incidence is greater among the most deprived areas when compared to the least deprived areas. For all cancers combined, incidence rates are 30% higher in the most deprived areas^[3] whilst people living in the most deprived areas were 74% more likely to die from cancer, compared with the least deprived^[4].

Cancer is a disease of the genome: most are caused by acquired genetic variations over time and in response to different environmental factors, or a combination of both (although our understanding of gene-environment interactions is imperfect). Exposure to major risk factors for cancer, such as smoking, harmful alcohol use, and obesity, also differ between the most and least deprived populations.

Cancers associated with inherited variants (also known as hereditary cancer syndromes) account for approximately 5-10% of all cancers. Individuals with inherited cancer variants will not all develop cancer, but they are at increased risk of cancer and of developing cancer at an earlier age as compared to the rest of the population.

By improving awareness and understanding of genomic testing across healthcare systems and the wider population, the impact of both rare and inherited conditions and cancer amongst those from deprived or low-income areas could be reduced and their outcomes improved, by:

• Aligning with other strategies to embed genomic testing within end-to-end clinical pathways to ensure genomic information can better support diagnosis, prognosis, management, and treatment.
• Incorporating genomic information into national targeted screening and surveillance efforts.
• Exploring different methods and techniques to support access to genomic testing and follow-up support.
• Supporting equitable access to genomically-informed clinical trials and experimental medicines.
• Supporting single point of contact (SPoC) and coordinated care efforts that help tackle barriers that prevent people seeking or accessing appropriate support.

The strategy ambition focussing on a sustainable and skilled workforce, and the mainstreaming of genomic medicine across the wider workforce, is also critical to ensure there is capacity to expand services and enable fair access to genomic testing and support for people, regardless of their socio-economic circumstances and location and thereby reducing inequality.