Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation
Obtaining a diagnosis is a fundamental component of utility in the provision of genomic testing. However, there is still value to those who do not receive a diagnosis. These results have implications for service delivery, such as providing targeted pre-test and post-test genetic counselling, and investing in efficient genome sequencing pipelines to reduce waiting times. Valuing the user experience of genomic testing aligns with patient-centred approaches to the provision of healthcare.
Authors
- Zosia Miedzybrodzka (ORCID: https://orcid.org/0000-0003-2890-8136)
- Sebastian Heidenreich (ORCID: https://orcid.org/0000-0002-1909-5770)
- Mandy Ryan (ORCID: https://orcid.org/0000-0001-6643-9129)
- Michael Abbott (ORCID: https://orcid.org/0000-0002-3418-0666)
- Rodolfo Hernández (ORCID: https://orcid.org/0000-0003-2619-8230)
Institutions
- University of Aberdeen (GB)
- EVRAZ (United Kingdom) (GB)
Publication Details
- Journal
- Applied Health Economics and Health Policy
- Published
- 2025-03-14
- DOI
- https://doi.org/10.1007/s40258-025-00948-x
- Citations
- 2
- Primary Topic
- Economic and Environmental Valuation
- Type
- article
- Field-Weighted Citation Impact
- 6.26
Funders
- Chief Scientist Office, Scottish Government Health and Social Care Directorate