Continuing the sequence?:Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

Funding 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.Peer reviewedPublisher PD