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

Footnotes

1 UK Government. The UK Rare Diseases Framework. 2021.

2 European Commission Expert Group on Public Health. Rare Diseases. 2023.

3 Alejandro Sweet-Cordero E et al, The genomic landscape of paediatric cancers: implications for diagnosis and treatment, Science 2019 Mar 15; 363(6432): 1170-1175.

4 Scottish Public Health Observatory, Children and Young People. 2023.

5 Public Health Scotland, Cancer Incidence and Prevalence in Scotland. 2021.

6 Public Health Scotland, Monitoring racialised health inequalities in Scotland. Data and Evidence. 2023.

7 Genetic Alliance UK, Good Diagnosis. Improving the experiences of diagnosis for people with rare conditions. 2022.

8 Genetic Alliance UK. Stats Behind the Stories. 2022.

9 Scottish Government, Rare Disease Action Plan. 2022.

10 Scottish Government, Consultation Analysis: New Cancer Strategy. 2022.

11 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.

12 Nuffield Council on Bioethics, Towards a Gold Standard of Ethics across Genomic Healthcare and Research. 2024.

13 Lewis C, Hammond J, Hill M, Searle B, Hunter A, Patch C, Chitty LS, Sanderson SC. Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project. Eur J Med Genet. 2020 Nov;63(11):104043. doi: 10.1016/j.ejmg.2020.104043. Epub 2020 Aug 22. PMID: 32835846.

14 Scottish Government, Getting it right for everyone (GIRFE). 2023.

15 Scottish Government, Getting it right for every child (GIRFEC). 2022.