Genomics in Scotland strategy: child rights and wellbeing impact assessment - stage 1 and 2

CRWIA Stage 1 – Screening

1. Brief Summary

Genomic medicine is a rapidly developing discipline that uses genetic information (the instructions within our cells that shape a person’s health, growth, and development) to diagnose disease, guide the use of different treatments or predict the risk of disease. From a relatively niche specialism genomic medicine is now ‘mainstreaming’ with genomic information used to support diagnosis, treatment, and screening across a growing range of clinical specialisms with cancer care as the biggest area of growth.

In March 2023 the Scottish Government published a strategic intent document which outlined its commitment to the development of a robust national genomic medicine service. Genomics in Scotland: Building our Future is Scotland’s first genomic medicine strategy and complements Scotland’s first Pathogen Genomic Strategy published by Public Health Scotland. This is a five-year strategy (2024-2029) which will be underpinned by consecutive implementation plans setting out the core actions across the strategy term. The first of these, for the initial year 2024-25, is published alongside the strategy.

2. Which aspects of the relevant proposal currently affects or will affect children and young people up to the age of 18?

The current strategy will focus on rare and inherited conditions and on cancer. These represent the areas of most acute need in Scotland. However, as genomic information is ‘mainstreamed’ and applied to other clinical specialisms then the impact of infrastructure, service and workforce transformation carried out under the lifetime of this strategy will impact on the wider healthcare system and those who interact with it.

Rare conditions are defined by the UK Rare Diseases Framework as those affecting no more than 1 person per 2,000.^[1] Although individually rare they are collectively common with an estimated 1 in 17 people in the UK affected by a rare disease at some point in their lives.¹ While not all rare conditions are genetic, the vast majority (an estimated 80%) have a genetic origin.^[2] Children are also disproportionally affected with 75% of rare diseases affecting children and more than 30% of children with a rare disease will die before the age of five years.¹ Genomic testing is vital in establishing a diagnosis, which can have an immediate impact on children and families in terms of planning care and treatment, accessing support and information and it can also help to inform family planning.

The strategy aims to expand access to genomic testing for those with rare and inherited conditions but also to offer people in Scotland the best available genomic testing to support early decision making and patient care both before and during pregnancy, whilst minimising risk to the mother and baby.

Cancer is a disease of the genome and is caused when changes in a person’s DNA cause cells to grow and divide uncontrollably. These changes can be inherited through families (known as ‘germline’ variants) which account for around 5-10% of cancer, or they can be acquired during a person’s lifetime (known as ‘somatic’ variants). Both germline and somatic variants may influence how a person’s cancer behaves or responds to treatment. Genomic sequencing research has consistently highlighted that there are key differences between paediatric and adult cancers. Whereas many adult cancers are characterised by a high number of somatic variants, paediatric cancers have a higher prevalence of germline variants in cancer predisposition genes. Paediatric cancer is also more diverse in terms of the types of genetic variants found but our knowledge is changing rapidly as more research is carried out not only at diagnosis but in relation to tumour progression, relapse, metastasis, and treatment response.^[3]

It is important, therefore, that the strategy focus not just on the expansion of genomic testing but ensuring that testing is embedded into clinical pathways and that genomic information can be accessed, and understood, across the healthcare system. This is to ensure that genomic information can inform clinical management and care. It is also to support existing initiatives around coordinated care and equitable access to genomically-enabled research and clinical trials, irrespective of a child’s location across Scotland. The relatively small numbers of children with rare conditions and with cancer, and the sheer diversity of genetic alterations, also underpins the wider strategic aim that genomic information be able to link in not only with national datasets and registries but also UK, EU and international research to ensure that we gain as much insight as possible to better improve outcomes for affected children. The work, therefore, should have a direct impact on children and young people affected by rare conditions and cancer. It should also indirectly impact positively on the family members of children and young people, including extended family members.

3. Which groups of children and young people are currently or will be affected by the relevant proposal?

• Children and young people with rare genetic or inherited conditions and their families.
• Children and young people with cancer.
• Children and young people whose parents have been identified as having an increased risk of a rare condition or specific forms of cancer.
• The strategy has the potential to impact on these groups regardless of their location, race and ethnicity (please refer to the accompanying Equality Impact Assessment for further information).

4. Is there a Stage 2 Children’s Rights and Wellbeing Impact Assessment required?

CRWIA required: Yes.

5. Sign and Date

Deputy Director Signature & Date of Sign Off: Lynne Nicol (29 May 2024)