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Should Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders? : A Cost-Effectiveness Analysis

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dc.contributor.authorAbbott, Michael
dc.contributor.authorRyan, Mandy
dc.contributor.authorHernández, Rodolfo Andrés
dc.contributor.authorMcKenzie, Lynda
dc.contributor.authorHeidenreich, Sebastian
dc.contributor.authorHocking, Lynne
dc.contributor.authorClark, Caroline
dc.contributor.authorAnsari, Morad
dc.contributor.authorMoore, David
dc.contributor.authorLampe, Anne
dc.contributor.authorMcGowan, Ruth
dc.contributor.authorBerg, Jonathan
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.institutionUniversity of Aberdeen.Health Economics Research Uniten
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Molecular and Cellular Functionen
dc.contributor.institutionUniversity of Aberdeen.Aberdeen Cancer Centreen
dc.contributor.institutionUniversity of Aberdeen.Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.date.accessioned2025-05-30T15:55:01Z
dc.date.available2025-05-30T15:55:01Z
dc.date.issued2025-04
dc.descriptionThe authors would like to thank the Scottish Genomes Partnership for their support with this work. Specifically, we thank, Christine Bell, Austin Diamond and Jon Warner for their collaboration. We thank Amy Rowlatt, Tessa Coupar, Courtney Elliot, Lorna McLean, Laura Taylor, Resifina Seyara, Florence Richards and Quinn Heppe for collecting the genetic testing data which was used to generate costs. We thank Professor Tim Aitman for his conceptualisation and management of the Scottish Genomes Partnership. We would also like to thank Edinburgh Genomics at the University of Edinburgh for their participation in the SGP project, the current NHS Scotland trio ES service, as well as their contribution to the generation of costs for this study. We also thank the members of our Project Advisory Group: Deborah Marshall, Sarah Wordsworth, Richard Herriot, Natalie Frankish, Sarah Ogilvie and Nicola Williams for providing comments on earlier versions of the cost-effectiveness model. Finally, this work would not be possible without the families, clinicians, nurses, research scientists, laboratory staff and wider members of the Scottish Genomes Partnership and Deciphering Developmental Disorders studies, to whom we give our grateful thanks.en
dc.description.statusPeer revieweden
dc.format.extent10
dc.format.extent987051
dc.identifier292450972
dc.identifierb973e1dd-416e-4f9f-b98f-f9be79848117
dc.identifier85203355835
dc.identifier39249625
dc.identifier.citationAbbott, M, Ryan, M, Hernández, R A, McKenzie, L, Heidenreich, S, Hocking, L, Clark, C, Ansari, M, Moore, D, Lampe, A, McGowan, R, Berg, J & Miedzybrodzka, Z 2025, 'Should Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders? A Cost-Effectiveness Analysis ', European Journal of Health Economics, vol. 26, no. 3, pp. 503-512. https://doi.org/10.1007/s10198-024-01717-8en
dc.identifier.doi10.1007/s10198-024-01717-8
dc.identifier.iss3en
dc.identifier.issn1618-7598
dc.identifier.otherORCID: /0000-0003-2619-8230/work/171979689
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113466
dc.identifier.urihttps://hdl.handle.net/2164/25530
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85203355835&partnerID=8YFLogxKen
dc.identifier.vol26en
dc.language.isoeng
dc.relation.ispartofEuropean Journal of Health Economicsen
dc.subjectSDG 3 - Good Health and Well-beingen
dc.subjectCost effectivenessen
dc.subjectEconomic evaluationen
dc.subjectGeneticsen
dc.subjectGenomicsen
dc.subjectRare conditionsen
dc.subjectR Medicineen
dc.subjectEconomics, Econometrics and Finance (miscellaneous)en
dc.subjectHealth Policyen
dc.subjectSupplementary Dataen
dc.subjectDASen
dc.subject.lccRen
dc.titleShould Scotland Provide Genome-Wide Sequencing for the Diagnosis of Rare Developmental Disorders? : A Cost-Effectiveness Analysisen
dc.typeJournal articleen

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