Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis

Michael Abbott (), Mandy Ryan, Rodolfo Hernández, Lynda McKenzie, Sebastian Heidenreich, Lynne Hocking, Caroline Clark, Morad Ansari, David Moore, Anne Lampe, Ruth McGowan, Jonathan Berg and Zosia Miedzybrodzka
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Michael Abbott: University of Aberdeen
Mandy Ryan: University of Aberdeen
Rodolfo Hernández: University of Aberdeen
Lynda McKenzie: University of Aberdeen
Sebastian Heidenreich: Evidera Inc.
Lynne Hocking: University of Aberdeen
Caroline Clark: NHS Grampian Regional Genetics Service, Aberdeen Royal Infirmary
Morad Ansari: South East Scotland Genetic Service, NHS Lothian
David Moore: South East Scotland Genetic Service, NHS Lothian
Anne Lampe: South East Scotland Genetic Service, NHS Lothian
Ruth McGowan: West of Scotland Centre for Genomic Medicine, QEUH
Jonathan Berg: NHS Tayside Genetics Service
Zosia Miedzybrodzka: University of Aberdeen

The European Journal of Health Economics, 2025, vol. 26, issue 3, No 11, 503-512

Abstract: Abstract Aims This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland. Methods Six genetic and genomic testing strategies were evaluated using a decision tree model. First-line, second-line and last-resort trio genome sequencing (GS), and second-line and last-resort trio exome sequencing (ES) were compared with standard genetic testing. The cost effectiveness of each strategy was expressed in terms of incremental cost per additional diagnosis. The impact of uncertainty on cost-effectiveness results was explored using deterministic and probabilistic sensitivity analysis. Results 2nd-line ES was a cost-saving option, increasing diagnostic yield by 13.9% and decreasing cost by £1027 per trio compared to standard genetic testing. Compared to ES, strategies involving GS increased costs significantly, with only a moderate or zero improvement in diagnostic yield. Sensitivity analysis indicated that significant reductions in cost or improvements in diagnostic yield are required before 1st-line GS becomes cost effective. Conclusion 2nd-line ES (after chromosomal microarray; replacing gene panel testing) for the diagnosis of developmental disorders is a cost-saving option for the Scottish NHS. Ongoing economic evaluation is required to monitor the evolving cost and diagnostic yield of GS and ES over time.

Keywords: Economic evaluation; Cost effectiveness; Genetics; Genomics; Rare conditions (search for similar items in EconPapers)
Date: 2025
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DOI: 10.1007/s10198-024-01717-8

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