Table 2.
a) Diagnostic pathways modelled in the health economic analysis^ and b) Cost and yield of diagnostic pathways if all 86 infants with unknown etiology at the time of presentation are investigated until an etiology is identified or they reach the end of the diagnostic pathway (Model A). Costs are listed in US dollars
| a | b | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Pathway | Step 1 | Step 2 | Step 3 | Step 4 | Step 5 | Total cost | Diagnoses made | Average cost per diagnosis | Cost per patient | ICER relative to Pathway 1 |
| 1 | Tier 1 | Tier 2 | Repeat MRI | Tier 3 | - | $661,103 | 39 | $16,951 | $7,687 | - |
| 2 | Tier 1 | Tier 2 | Repeat MRI | Tier 3 | WES | $738,136 | 48 | $15,378 | $8,583 | $8,559 |
| 3 | Tier 1 | Tier 2 | Repeat MRI | WES | Tier 3 | $690,356 | 48 | $14,382 | $8,027 | $3,250 |
| 4 | Tier 1 | Tier 2 | WES | Repeat MRI | Tier 3 | $693,951 | 48 | $14,457 | $8,069 | $3,650 |
| 5 | Tier 1 | WES | Tier 2 | Repeat MRI | Tier 3 | $677,081 | 48 | $14,106 | $7,873 | $1,775 |
| 6 | Tier 1 | WES | Repeat MRI | Tier 2 | - | $553,431 | 48 | $11,530 | $6,435 | Pathway 6 dominates Pathway 1! |
| 7 | Tier 1 | WES | Repeat MRI | - | - | $455,597 | 46 | $9,904 | $5,298 | Pathway 7 dominates Pathway 1! |
Tier 3 not performed if a brain malformation was strongly suspected as these infants would not typically undergo tissue biopsies in clinical practice
ICER = incremental cost-effectiveness ratio, WES = targeted WES
!
’Dominates’ refers to being more effective and less costly than the comparison