Table 2 Resource use and cost parameters.
Parameters | Mean | Distribution | Source and assumptions |
|---|---|---|---|
Standard testing: patients receiving nongenetic investigations or procedures | |||
Biochemical/metabolic workup | 55% | Fixed | Expert opinion: 20–90% |
Neuroimaging (brain MRI) | 40% | Fixed | Expert opinion: 30–50% |
Invasive tests (muscle biopsy) | 2.5% | Fixed | Expert opinion: 0–5% |
Echocardiogram | 3% | Fixed | Expert opinion: 1–5% |
Electroencephalogram | 35% | Fixed | Expert opinion: 20–50% |
Cost of genetic and nongenetic diagnostic tests | |||
CMA | $825 | Gamma (2010, 2.44) | Jegathisawaran et al.9 |
ES (90% trio) | $4589.40 | Normal (4589.4, 45) | Based on average price paid by OOC Prior Approval Program |
GS (90% trio) | $6235.40 | — | Weighted average based on Jegathisawaran et al.9 |
• GS proband | $3350 | Gamma (3202, 0.96) | Jegathisawaran et al.9 |
• GS trio | $6556 | Gamma (1992, 0.30) | Jegathisawaran et al.9 |
Standard genetic testing | |||
• Test cost | $7235.40 | Lognormal (8.40, 0.95) | Oei et al.23 |
• Physician cost | $448.20 | Fixed | Cost per visit based on OHIP SOB (K222); assumed 6 medical geneticist visits on average based on clinical expert opinion |
Fragile X testing | $333.90 | Normal (333.9, 2.6) | Yuen et al.19 (for patients with developmental disabilities only) |
Biochemical or metabolic workup | $528 | Normal (528, 53) | Bélanger and Caron, 20183 |
Neuroimaging (brain MRI) | |||
• Test cost | $771.60 | Normal (771.6, 77) | Ontario Case Costing Initiative 2017 |
• Physician fees | $73.35 | Fixed | OHIP SOB (X421) |
Invasive procedures | |||
• Muscle biopsy | $748.20 | Normal (748.2, 75) | Rosenberg et al.34 |
• Physician fees | $48.65 | Fixed | OHIP SOB (L864) |
• Skin biopsy | $404.60 | Normal (404.6, 41) | Joshi et al. ($379)35 |
• Physician fees | $48.65 | Fixed | OHIP SOB (L864) |
Echocardiogram | |||
• Test cost | $412.90 | Normal (412.9, 41) | Medical Advisory Secretariat 201036 |
• Physician fees | $204.05 | Fixed | OHIP SOB (G570, G571, G572) |
Electroencephalogram | |||
• Test cost | $831.10 | Normal (831.1, 83) | Green et al.37 |
• Physician fees | $47.55 | Fixed | OHIP SOB (G414, G415) |
Pretest genetic services | |||
Medical geneticist (cost per session) | OHIP SOB (A225 for 1st session; K222 × 2 for 2nd session); Yuen et al. (CMA: 1 session only; ES/GS: 90% have 1 session, and 10% have 2 sessions)19 | ||
• 1st session (assume 1 hour) | $165 | Fixed | |
• 2nd session (assume 1 hour) | $149.40 | Fixed | |
Genetic counselor (cost per session; assume 1 hour) | $41.20 | Fixed | Yuen et al. (CMA: 1 session only; ES/GS: 90% have 1 session, and 10% have 2 sessions)19 |
Post-test genetic services | |||
Positive finding or VUS (cost per session) | |||
• Medical geneticist (assume 1 hour) | $149.40 | Fixed | OHIP SOB (K222 × 2 for 1-h session) |
• Genetic counselor (assume 1 hour) | $41.20 | Fixed | Yuen et al. (if secondary finding is identified)19 |
Negative finding | — | — | Expert opinion: negative results are usually communicated by phone with medical geneticist; no clinical visit is needed |
