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Continuing the sequence? : Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotland

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dc.contributor.authorAbbott, Michael
dc.contributor.authorMcKenzie, Lynda
dc.contributor.authorMoran, Blanca
dc.contributor.authorHeidenreich, Sebastian
dc.contributor.authorHernández, Rodolfo Andrés
dc.contributor.authorHocking- Mennie, Lynne
dc.contributor.authorClark, Caroline
dc.contributor.authorClark, Caroline
dc.contributor.authorGomes, Joana
dc.contributor.authorLampe, Anne
dc.contributor.authorBaty, David
dc.contributor.authorMcGowan, Ruth
dc.contributor.authorMiedzybrodzka, Zosia
dc.contributor.authorRyan, Mandy
dc.contributor.institutionUniversity of Aberdeen.Health Economics Research Uniten
dc.contributor.institutionUniversity of Aberdeen.Institute of Medical Sciencesen
dc.contributor.institutionUniversity of Aberdeen.Applied Medicineen
dc.contributor.institutionUniversity of Aberdeen.Institute of Applied Health Sciencesen
dc.date.accessioned2022-02-03T11:24:01Z
dc.date.available2022-02-03T11:24:01Z
dc.date.issued2022-10
dc.descriptionFunding This research was made possible through access to the data and findings generated by Scotland’s four regional genetics centres at NHS Grampian, Lothian, Tayside and Greater Glasgow and Clyde. These four centres participated in Scotland’s involvement in the 100,000 Genomes Project. The 100,000 Genomes Project is managed by Genomics England Limited (a wholly owned company of the Department of Health) and funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. Acknowledgements The authors would like to thank the Scottish Genomes Partnership for their support with this work. The Scottish Genomes Partnership is funded by the Chief Scientist Office of the Scottish Government Health Directorates [SGP/1] and The Medical Research Council Whole Genome Sequencing for Health and Wealth Initiative (MC/PC/15080). We are grateful for the contributions of the funding bodies; Scottish Regional Genetics centres at NHS Lothian, Tayside, Grampian and Greater Glasgow and Clyde, clinicians and healthcare teams who contributed to the provision of data as well as the analyses and interpretation of results. We also thank Morad Ansari, Christine Bell, Martin McClatchey, Nicola Williams, Austin Diamond, Jonathan Berg, Jon Warner, Alexis Duncan, Amy Rowlatt, and Tessa Coupar for their help and advice during the SGP Project, and Michael Doherty, Florence Richards and Quinn Heppe for help with costing the standard testing pathway. We thank Professor Tim Aitman for commenting on earlier drafts of the paper. We thank all participants who took part in the valuation study. The University of Aberdeen and the Chief Scientist Office of the Scottish Government Health and Social Care Directorates fund the Health Economics Research Unit (HERU). This study would not be possible without the families, patients, clinicians, nurses, research scientists, laboratory staff, and the wider Scottish Genomes Partnership team to whom we give grateful thanks.en
dc.description.statusPeer revieweden
dc.format.extent16
dc.format.extent498806
dc.format.extent1777115
dc.identifier197311517
dc.identifier56e2a6bf-6729-4e4e-8807-dd56f7cfe3ba
dc.identifier85113145375
dc.identifier.citationAbbott, M, McKenzie, L, Moran, B, Heidenreich, S, Hernández, R A, Hocking- Mennie, L, Clark, C, 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', Journal of Community Genetics, vol. 13, pp. 487-501. https://doi.org/10.1007/s12687-021-00541-4en
dc.identifier.doi10.1007/s12687-021-00541-4
dc.identifier.issn1868-6001
dc.identifier.otherORCID: /0000-0003-2619-8230/work/159078541
dc.identifier.otherORCID: /0000-0003-2890-8136/work/175113385
dc.identifier.urihttps://hdl.handle.net/2164/18026
dc.identifier.vol13en
dc.language.isoeng
dc.relation.ispartofJournal of Community Geneticsen
dc.subjectWhole Genome Sequencingen
dc.subjectDiagnostic Odysseyen
dc.subjectCosts and Benefitsen
dc.subjectEconomic Evaluationen
dc.subjectValuationen
dc.subjectR Medicineen
dc.subjectChief Scientist Office (CSO)en
dc.subjectSGP/1en
dc.subjectMedical Research Council (MRC)en
dc.subjectMC/PC/15080en
dc.subjectOtheren
dc.subjectSupplementary Informationen
dc.subject.lccRen
dc.titleContinuing the sequence? : Towards an Economic Evaluation of Whole Genome Sequencing for the Diagnosis of Rare Diseases in Scotlanden
dc.typeJournal articleen

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