Publication - Impact assessment

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

Published: 28 June 2024
From: Cabinet Secretary for Health and Social Care
Directorate: Chief Operating Officer, NHS Scotland Directorate
Topic: Business, industry and innovation, Education, Health and social care
ISBN: 9781836014461

Child rights and wellbeing impact assessment (CRWIA) stage 1 and 2 for the Genomics in Scotland: Building our Future five-year national strategy (2024 to 2029).

Supporting documents

CRWIA Stage 2 – Assessment of Impact and Compatibility

1. What evidence have you used to inform your assessment?

What does it tell you about the impact on children’s rights?

Desk-based research was carried out using published evidence, including:

Scottish Public Health Observatory (2023). Children and Young People.^[4]
Public Health Scotland on Cancer Incidence in Scotland (2021). Cancer incidence and prevalence in Scotland to December 2019. and Prevalence in Scotland.^[5]
Public Health Scotland (2023). Monitoring racialised health inequalities in Scotland.^[6]
Genetic Alliance UK (2022). Good Diagnosis. Improving the experiences of diagnosis for people with rare conditions.^[7]
Genetic Alliance UK (2022). Stats Behind the Stories.^[8]
UK Government (2021). UK Rare Disease Framework.¹
Scottish Government (2022). Rare Disease Action Plan.^[9]
Scottish Government (2022). Consultation Analysis: New Cancer Strategy.^[10]
Abbott M, McKenzie L, Moran BVG, Heidenreich S, Hernández R, Hocking-Mennie L, Clark C, Gomes J, Lampe A, Baty D, McGowan R, Miedzybrodzka Z, Ryan M. (2022). Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland. J Community Genet. Oct;13(5):487-501. doi: 10.1007/s12687-021-00541-4. Epub 2021 Aug 20. PMID: 34415556; PMCID: PMC9530076.^[11]
Nuffield Council on Bioethics (2024). Towards a Gold Standard of Ethics across Genomic Healthcare and Research.^[12]

We do not anticipate, from the available evidence, that the ambitions of the strategy will have a negative impact on children’s rights although there are areas around consent, incidental findings, family testing and retention and use of genomic information where we have identified that consultation will be needed.

We do not currently have and did not seek as part of the development of the strategy, views of children and young people or data on their experiences of current services beyond the reports cited above. The strategy identified the high-level areas of focus, but we do intend to consult with children, young people and families throughout the strategy term to inform implementation.

2. Evidence from public consultation, major event evaluations, statistics, wider survey data and research.

The strategy was developed with input from healthcare scientists, healthcare professionals and researchers across Scotland including those from paediatric and maternity services. As part of the consultation, we engaged with the Scottish Cancer Coalition and Genetic Alliance UK. This informed the strategy focus on expansion of genomic testing and the core themes of work, including patient and citizen engagement, needed to develop genomic medicine in Scotland.

3. Evidence from children and young people

We did not consult directly with children and young people, and there was no public consultation as part of strategy development. Limited evidence was available on children and young people’s experiences of genomic testing but we did draw on published evidence around the impact of genomic testing in shortening the ‘diagnostic odyssey’ (the time taken to establish a diagnosis) in rare and inherited conditions and the benefits of a diagnosis on patient outcomes and quality of life.^11,[13]

However, as we work towards strategy implementation, we will work with the Scottish Strategic Network for Genomic Medicine’s Patient Involvement Advisory Group and utilise the Children and Young People Participation Framework to identify the areas where consultation is needed and determine the best way to gather views and input directly from children and young people as part of this process.

Analysis of the evidence

4. How have the findings outlined in questions 1-3 influenced the development of the relevant proposal?

Our work has highlighted the need to engage with children, young people and families around specific areas of the strategy and we intend to work closely with the SSNGM’s Patient Involvement Advisory Group and utilise the Children and Young People Participation Framework to guide this work and how best to engage.

Many of the concerns from the clinical, scientific and research community around consent, incidental findings, family testing and retention and use of genomic information are broad, and we will also need to work closely with colleagues across the UK working on the same issues. The Nuffield Council on Bioethics, for example, is working with colleagues across the UK on ethical principles in genomics as part of the Genome UK strategy and we intend to work closely with them.

5. Assessing for compatibility against the UNCRC requirements

UNCRC Articles

What impact does/will your relevant proposal have on children’s rights

Article 1 Definition of the child. Impact: Neutral.

Article 2 Non-discrimination. Impact: Neutral.

Article 3 Best interests of the child. Impact: Positive.

Article 4 Implementation of the Convention. Impact: Neutral.

Article 5 Parental guidance and a child’s evolving capabilities. Impact: Neutral.

Article 6 Life, survival and development. Impact: Positive.

Article 7 Birth registration, name, nationality, care. Impact: Neutral.

Article 8 Protection and preservation of identity. Impact: Neutral.

Article 9 Separation from parents. Impact: Neutral.

Article 10 Family reunification. Impact: Neutral.

Article 11 Abduction and non-return of children. Impact: Neutral.

Article 12 Respect for the views of the child. Impact: Positive.

Article 13 Freedom of expression. Impact: Neutral.

Article 14 Freedom of thought, belief and religion. Impact: Neutral.

Article 15 Freedom of association. Impact: Neutral.

Article 16 Right to privacy. Impact: Neutral.

Article 17 Access to information from the media. Impact: Neutral.

Article 18 Parental responsibilities and state assistance. Impact: Neutral.

Article 19 Protection from violence, abuse and neglect. Impact: Neutral.

Article 20 Children unable to live with their family. Impact: Neutral.

Article 21 Adoption. Impact: Neutral.

Article 22 Refugee children. Impact: Neutral.

Article 23 Children with a disability. Impact: Positive.

Article 24 Health and health services. Impact: Positive.

Article 25 Review of treatment in care. Impact: Neutral.

Article 26 Social security. Impact: Neutral.

Article 27 Adequate standard of living. Impact: Neutral.

Article 28 Right to education. Impact: Neutral.

Article 29 Goals of education. Impact: Neutral.

Article 30 Children from minority or indigenous groups. Impact: Neutral.

Article 31 Leisure, play and culture. Impact: Neutral.

Article 32 Child labour. Impact: Neutral.

Article 33 Drug abuse. Impact: Neutral.

Article 34 Sexual exploitation. Impact: Neutral.

Article 35 Abduction, sale, and trafficking. Impact: Neutral.

Article 36 Other forms of exploitation. Impact: Neutral.

Article 37 Inhumane treatment and detention. Impact: Neutral.

Article 38 War and armed conflicts. Impact: Neutral.

Article 39 Recovery from trauma and reintegration. Impact: Neutral.

Article 40 Juvenile justice. Impact: Neutral.

Article 41 Respect for higher national standards. Impact: Neutral.

Article 42 Knowledge of rights. Impact: Neutral.

First optional protocol

Article 4. Impact: Neutral.

Article 5. Impact: Neutral.

Article 6. Impact: Neutral.

Article 7. Impact: Neutral.

Second optional protocol.

Article 1. Impact: Neutral.

Article 2. Impact: Neutral.

Article 3. Impact: Neutral.

Article 4. Impact: Neutral.

Article 6. Impact: Neutral.

Article 7. Impact: Neutral.

Article 8. Impact: Neutral.

Article 9. Impact: Neutral.

Article 10. Impact: Neutral.

Article 11. Impact: Neutral.

6. Impact on children and young people

The Genomics in Scotland Strategy is concerned with genomic medicine services for the overall Scottish population, including both children and adults. It is focused on rare and inherited conditions and cancer as representing the areas of greatest need in Scotland. The majority (an estimated 75%) of those affected by rare genetic conditions are children and infants. Cancer is the biggest area of growth in terms of genomic testing referrals and paediatric cancer is a particular concern given the relatively small numbers of affected children, the diversity of genetic alterations and the genomic differences between paediatric and adult cancers. Genomic testing, particularly in relation to rare and inherited conditions, has potential implications for family planning and reproductive health as well as prenatal and antenatal care. There should be several potential positive impacts and the Strategy has the potential to maximise these. We will have a better understanding of what these might be as planning for strategy implementation develops during 2024.

In terms of the UNCRC articles, most of the impacts are neutral and the Strategy is expected to have no effect either positively or negatively. This is because the Strategy has a focus on genomic medicine, the use of genetic information to inform and shape medical care or predict the risk of disease.

In broader terms, the Strategy could have a positive effect on Articles 3, 6, 12, 23 and 24. These should be direct impacts and are predominantly related to ambitions around the expansion of access to genomic testing which could have a positive impact on the rights of children to survive and develop to their full potential (Article 6), for children with a disability to live a full and decent life with dignity (Article 23) and the right to the best possible health (Article 24). This is a high level CRWIA for the overall strategy that outlines the aims but not specifics of the implementation of different pieces of work. Plans for implementation within the life cycle of the strategy will include further information from children and young people.

7. Negative Impact/Incompatibility

No negative impacts or concerns about compatibility have been identified.

8. Options for modification or mitigation of negative impact or incompatibility

No negative impacts or potential incompatibility issues have been identified.

9. Positive impact: Giving better or further effect to children’s rights in Scotland

We have identified positive impacts related to the Genomics in Scotland Strategy.

These focus on:

Article 3 – Best interests of the child: The Strategy should have a positive and direct impact in working to expand access both to necessary genomic testing and to the genomic information needed to support coordination of care and support for children and families.

Article 6 – Life, survival and development: The Strategy should have a positive and direct impact in working to expand genomic testing to support the right test for the right person at the right time in line with the wider Getting It Right for Everyone (GIRFE)^[14] and Getting It Right for Every Child (GIRFEC) principles.^[15]

Article 12 – Respect for the views of the child: The Strategy should have a positive and direct impact in its ambitions to consult with children and young people about the use of genomic information, ensuring that consent models and information provided is transparent and accessible, and this includes responding to their views and integrating them into the planning, delivery, and measurement of impact of services.

Article 23 – Children with a disability: The Strategy should have a positive and direct impact in working to expand access both to necessary genomic testing and the genomic information needed to support coordination of care and access to support for children with disabilities and their families.

Article 24 – Health and health services: The Strategy should have a positive and direct impact in working to expand access both to necessary genomic testing and the genomic information needed to ensure the highest standards of healthcare, equity of access to clinical trials and to support wider efforts to detect and mitigate against life-threatening conditions.