Table 1.
Economic evaluation results.
| Analyses | Costs (AU$) | Diagnostic yield (%) | Incremental cost (AU$) | Incremental yield (%) | ICER (AU$) | Incremental WTP (AU$) | Net benefit (AU$) |
|---|---|---|---|---|---|---|---|
| Approach 1a | |||||||
| Genomic sequencing | 6757 | 38 | −1997 | 11 | Dominant | 5890 | 7887 |
| Conventional care | 8754 | 27 | − | − | |||
| Late genomic sequencing | 12,366 | 33 | − | − | |||
| Approach 1b | |||||||
| ES ± mtDNA | 6406 | 33 | |||||
| GS | 7170 | 44 | 764 | 11 | 6945 | 425 | −339 |
| Conventional care | 8754 | 27 | − | − | Dominated | ||
| Late ES ± mtDNA | 12,067 | 28 | − | − | Dominated | ||
| Late GS | 12,719 | 38 | − | − | Dominated | ||
| Approach 2 | |||||||
| Genomic sequencing | 9387 | 38 | −8823 | 14 | Dominant | 5890 | 14,713 |
| Conventional care | 18,210 | 24 | − | − | |||
ES ± mtDNA exome sequencing followed by mitochondrial DNA sequencing if a molecular diagnosis is not made, GS genome sequencing, ICER incremental cost-effectiveness ratio, WTP willingness-to-pay.