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

This study aims to evaluate the cost effectiveness of genetic and genomic testing strategies for the diagnosis of rare developmental disorders in NHS Scotland. 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. 2nd-line ES was a cost-saving option, increasing diagnostic yield by 13.9