Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis
2nd-line ES (after chromosomal microarray; replacing gene panel testing) for the diagnosis of developmental disorders is a cost-saving option for the Scottish NHS. Ongoing economic evaluation is required to monitor the evolving cost and diagnostic yield of GS and ES over time.
Authors
- Ruth McGowan (ORCID: https://orcid.org/0000-0002-2188-2239)
- Zosia Miedzybrodzka (ORCID: https://orcid.org/0000-0003-2890-8136)
- Sebastian Heidenreich (ORCID: https://orcid.org/0000-0002-1909-5770)
- Morad Ansari (ORCID: https://orcid.org/0000-0002-8905-5379)
- Caroline Clark (ORCID: https://orcid.org/0000-0002-7629-3546)
- Mandy Ryan (ORCID: https://orcid.org/0000-0001-6643-9129)
- Michael Abbott (ORCID: https://orcid.org/0000-0002-3418-0666)
- Lynne J. Hocking (ORCID: https://orcid.org/0000-0002-2414-2826)
- Rodolfo Hernández (ORCID: https://orcid.org/0000-0003-2619-8230)
- David Moore (ORCID: https://orcid.org/0000-0001-9308-5741)
- Jonathan Berg
- Anne Lampe
- Lynda McKenzie
Institutions
- NHS Lothian (GB)
- University of Aberdeen (GB)
- Beatson West of Scotland Cancer Centre (GB)
- Aberdeen Royal Infirmary (GB)
- NHS Tayside (GB)
- NHS Grampian (GB)
- EVRAZ (United Kingdom) (GB)
Publication Details
- Journal
- The European Journal of Health Economics
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1007/s10198-024-01717-8
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55
Funders
- NHS Health Scotland
- Chief Scientist Office, Scottish Government Health and Social Care Directorate