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

Michael Abbott (Lead / Corresponding author), Lynda McKenzie, Blanca Viridiana Guizar Moran, Sebastian Heidenreich, Rodolfo Hernández, Lynne Hocking-Mennie, Caroline Clark, Joana Gomes, Anne Lampe, David Baty, Ruth McGowan, Zosia Miedzybrodzka, Mandy Ryan

    Research output: Contribution to journalArticlepeer-review

    4 Citations (Scopus)
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    Novel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost-benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

    Original languageEnglish
    Pages (from-to)487–501
    Number of pages15
    JournalJournal of Community Genetics
    Early online date20 Aug 2021
    Publication statusPublished - 1 Oct 2022


    • Costs and benefits
    • Diagnostic odyssey
    • Economic evaluation
    • Valuation
    • Whole genome sequencing

    ASJC Scopus subject areas

    • Epidemiology
    • Public Health, Environmental and Occupational Health
    • Genetics(clinical)


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