Table 1.
Estimated annual cost per sample for different genetic testing platforms for proband and for trio in children with autism
| Cost category | Chromosomal microarray (95% CI) | Whole exome sequencing | Whole genome sequencing | ||||
|---|---|---|---|---|---|---|---|
| Hi Seq® 2500 | Next Seq® 550 | HiSeq X™ | |||||
| Proband (95% CI) | Trio (95% CI) | Proband (95% CI) | Trio (95% CI) | Proband (95% CI) | Trio (95% CI) | ||
| Labor | 151.30 (139.30, 163.50) | 506.30 (465.10, 546.70) | 688.50 (647.90, 729.50) | 499.80 (457.80, 544.20) | 656.40 (616.70, 697.50) | 464.70 (417.20, 515.30) | 473.70 (430.60, 520.50) |
| Large equipment | 50.10 (47.10, 53.10) | 385.50 (370.00, 400.90) | 128.50 (123.30, 133.60) | 115.10 (109.00, 121.20) | 38.40 (36.30, 40.40) | 583.60 (549.80, 617.00) | 194.60 (183.40, 206.10) |
| Small equipment | N/A | 8.80 (8.50, 9.10) | 2.90 (2.80, 3.00) | 8.80 (8.50, 9.10) | 2.90 (2.80, 3.00) | 8.80 (8.50, 9.10) | 2.90 (2.80, 3.00) |
| Supplies | 501.20 (470.30, 531.10) | 643.20 (617.90, 668.20) | 1929.60 (1854.20, 2004.70) | 1002.70 (955.90, 1048.40) | 3008.00 (2865.50, 3147.30) | 1367.50 (1284.50, 1448.90) | 4099.90 (3847.70, 4348.80) |
| Follow-up | 76.90 (69.10, 84.80) | 155.40 (138.90, 173.00) | 31.10 (26.20, 36.30) | 155.30 (138.70, 172.40) | 31.10 (26.20, 36.40) | 177.00 (159.00, 195.40) | 96.20 (87.80, 104.80) |
| Bioinformatics | N/A | 49.10 (45.80, 52.30) | 147.10 (137.40, 157.00) | 49.00 (45.90, 52.30) | 147.20 (137.40, 156.90) | 419.40 (390.60, 449.10) | 1258.30 (1172.80, 1346.70) |
| Overhead | 44.90 (42.10, 47.70) | 211.80 (201.90, 221.50) | 215.70 (206.20, 225.30) | 150.00 (140.50, 160.10) | 188.40 (179.30, 197.80) | 329.30 (314.50, 344.10) | 430.30 (408.50, 452.40) |
| Total | 825.00 (789.00, 859.00) | 1960.00 (1899.00, 2020.00) | 3143.40 (3052.90, 3233.90) | 1981.00 (1909.00, 2054.00) | 4072.30 (3922.60, 4222.50) | 3350.00 (3234.00, 3467.00) | 6556.00 (6278.00, 6832.00) |
Trio is defined as child and two parents. Estimates based on overhead costs of 22.3%, 500 total tests for probands, and 1500 total tests for trios done for all indications per year, and an average of two primary variants found per test. Confidence intervals (CI) are based on 10,000 Monte Carlo replications
All estimates are given in 2018 Canadian dollars (CAD)