Genomic medicine strategy 2024 to 2029

Our strategy for transforming genomic medicine across Scotland from 2024 to 2029.


21. References

1. Scottish Government. (2023). Genomics in Scotland: Building our Future Strategic Intent. URL: https://www.gov.scot/publications/genomics-scotland-building-future/

2. Public Health Scotland. (2023). Pathogen Genomics Strategy for Scotland. URL: https://publichealthscotland.scot/publications/

3. Dominiczak, A., Padmanabhan, S., Caulfield, M., Sutherland, K., Wang, J., & Jones, J. (2023). Introducing Cambridge Prisms: Precision medicine. Cambridge Prisms: Precision Medicine, 1, E20. DOI:10.107/pcm.2023.7

4. UK Government. (2020). Genome UK: The Future of Healthcare: URL: https://www.gov.uk/government/publications/genome-uk-the-future-of-healthcare

5. UK Government. (2022). UK Shared Commitments for UK-wide implementation 2022 to 2025. URL: https://www.gov.uk/government/publications/genome-uk-shared-commitments-for-uk-wide-implementation-2022-to-2025

6. Scottish Scientific Advisory Council. (2019). Informing the Future of Genomic Medicine in Scotland. Scottish Scientific Advisory Council. URL: https://scottishscience.org.uk/sites/default/files/article-attachments/Genomics%20Full%20Report.pdf

7. NHS National Services Division. (2022). Major Review Report: Genetics and Molecular Pathology Laboratory Service. URL: https://www.nss.nhs.scot/media/2517/scottish-genetics-molecular-pathology-laboratory-service-major-review-report-2022-v10.pdf

8. NHS National Services Division Information Services Division. (2015). Cancer Incidence Projections 2013-2027. URL: 2015-08-18-Cancer-Incidence-Projections-Summary.pdf (isdscotland.org)

9. UK Government. (2021). The UK Rare Diseases Framework. URL: https://www.gov.uk/government/publications/uk-rare-diseases-framework/the-uk-rare-diseases-framework

10. European Commission Expert Group on Public Health. Rare Diseases. URL: https://health.ec.europa.eu/non-communicable-diseases/expert-group-public-health/rare-diseases_en (accessed: October 2023).

11. Gatta G, van der Zwan JM, Casali PG, Siesling S, Dei Tos AP, Kunkler I, Otter R, Licitra L, Mallone S, Tavilla A, Trama A, Capocaccia R; RARECARE working group. Rare cancers are not so rare: the rare cancer burden in Europe. Eur J Cancer. 2011 Nov;47(17):2493-511. doi: 10.1016/j.ejca.2011.08.008. Epub 2011 Oct 25. PMID: 22033323.

12. Scottish Government. (2023). Cancer Strategy for Scotland 2023 to 2033. URL: https://www.gov.scot/publications/cancer-strategy-scotland-2023-2033/documents/

13. Nogrady, B. How cancer genomics is transforming diagnosis and treatment, Nature 579. S10-211 (2020). doi: https://doi.org/10.1038/d41586-020-00845-4

14. Scottish Government. (2022). Rare Disease Action Plan. URL: https://www.gov.scot/publications/rare-disease-action-plan/

15. Genetic Alliance UK. (2022). Rare Disease UK Good Diagnosis Report. URL: https://geneticalliance.org.uk/wp-content/uploads/2022/02/Rare-Disease-UK-Good-Diagnosis-Report-2022-Final.pdf

16. NHS National Services Division. Scottish Cancer Test Directory. URL: https://www.nss.nhs.scot/publications/ssngm-cancer-test-directory/ (Accessed: October 2023).

17. NHS National Services Division. Scottish Rare and Inherited Disease Test Directory. URL: https://www.nss.nhs.scot/publications/ssngm-rare-and-inherited-disease-test-directory/ (Accessed: October 2023).

18. Right Decision Service for Health and Care. URL: https://rightdecisions.scot.nhs.uk/ (Accessed: October 2023).

19. Alarcón Garavito, G.A., Moniz, T., Déom, N. et al. The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review . Eur J Hum Genet 31, 282–295 (2023). https://doi.org/10.1038/s41431-022-01259-8

20. SHARE – The Scottish Health Research Register and Biobank. URL: https://www.registerforshare.org/ (Accessed: October 2023).

21. Scottish Government. (2023). Mental Health and Wellbeing Strategy. URL: https://www.gov.scot/publications/mental-health-wellbeing-strategy/documents/

22. Scottish Government. (2020). Expert Reference Group on COVID-19 and Ethnicity: recommendations to Scottish Government. URL: https://www.gov.scot/publications/expert-reference-group-on-covid-19-and-ethnicity-recommendations-to-scottish-government/

23. NHS Race and Health Observatory. (2022). Ethnic Inequalities in Healthcare. A Rapid Evidence Review. URL: https://www.nhsrho.org/research/ethnic-inequalities-in-healthcare-a-rapid-evidence-review-3/

24. Digital Front Door. Digital Health and Care Scotland. URL: https://www.digihealthcare.scot/our-work/digital-front-door/ (Accessed: October 2023)

25. Scottish Government. (2023). Health and Social Care: Data Strategy. URL: https://www.gov.scot/publications/data-strategy-health-social-care-2/

26. 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.

27. Office for National Statistics. (2022). Trust in government, UK: 2022. URL: https://www.ons.gov.uk/peoplepopulationandcommunity/wellbeing/bulletins/trustingovernmentuk/2022

28. Scottish Government and The Liminal Space. (2022). Data Dialogues 2. URL: https://www.digihealthcare.scot/app/uploads/2022/03/FINAL-Data-Dialogues-Report-compressed-1.pdf)

29. UK Government Centre for Data Ethics and Innovation. (2022). Public attitudes to data and AI: Tracker survey (Wave 2). URL: https://www.gov.uk/government/publications/public-attitudes-to-data-and-ai-tracker-survey-wave-2/public-attitudes-to-data-and-ai-tracker-survey-wave-2

30. Cunningham-Burley, S., McCartney, D.L., Campbell, A. et al. (2022). Feasibility and ethics of using data from the Scottish newborn blood spot archive for research. Commun Med 2, 126. https://doi.org/10.1038/s43856-022-00189-2

31. Scottish Government. (2023). Improving equity of access to cancer clinical trials in Scotland. URL: https://www.gov.scot/publications/improving-equity-access-cancer-clinical-trials-scotland/documents/

32. UK Government. (2023). Independent report: Commercial clinical trials in the UK: the Lord O’Shaughnessy review final report. URL: https://www.gov.uk/government/publications/commercial-clinical-trials-in-the-uk-the-lord-oshaughnessy-review/commercial-clinical-trials-in-the-uk-the-lord-oshaughnessy-review-final-report

33. Scottish Government. (2021). A changing nation: how Scotland will thrive in a digital world. URL: https://www.gov.scot/publications/a-changing-nation-how-scotland-will-thrive-in-a-digital-world/documents/

34. UK Government and Association of British Insurers. (2018). Code on Genetic Testing and Insurance. A voluntary code of practice agreed between HM Government and the Association of British Insurers on the role of genetic testing in insurance. URL: https://www.abi.org.uk/globalassets/files/publications/public/genetics/code-on-genetic-testing-and-insurance-final.pdf

35. UK Government. (2020). Data Ethics Framework. URL: https://www.gov.uk/government/publications/data-ethics-framework

36. Lucassen A and Hall A. (2012). Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information. Clin Med. DOI: https://doi.org/10.7861/clinmedicine.12-1-5

37. Royal College of Physicians and British Pharmacological Society. (2022). Personalised prescribing: using pharmacogenomics to improve patient outcomes. Report of a working party. London: RCP and BPS.

38. Swen, J. J. et al. (2023). A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study. Lancet. 4;401(10374):347-356. doi: 10.1016/S0140-6736(22)01841-4.

39. European Medicines Agency. EMA recommendations on DPD testing prior to treatment with fluorouracil, capecitabine, tegafur and flucytosine. URL: https://www.ema.europa.eu/en/medicines/human/referrals/fluorouracil-fluorouracil-related-substances-capecitabine-tegafur-flucytosine-containing-medicinal (Accessed: October 2023).

40. Scottish Government. (2021). Digital health and care strategy: Care in the Digital Age. URL: https://www.gov.scot/publications/scotlands-digital-health-care-strategy/

41. Health Care Without Harm and ARUP. (2019). Health Care’s Climate Footprint. How the health sector contributes to the global climate crisis and opportunities for action. Green paper number one. URL: https://www.arup.com/perspectives/publications/research/section/healthcares-climate-footprint

42. Scottish Government. (2022). NHS Scotland climate emergency and sustainability strategy: 2022-2026. URL: https://www.gov.scot/publications/nhs-scotland-climate-emergency-sustainability-strategy-2022-2026/

Contact

Email: holly.ennis@gov.scot

Back to top