Table 3 Reference case results: total costs and outcomes of ES/GS at various tiers versus standard testing.
ES after standard testinga | ES as 2nd tier (after CMA alone) | ES alone as 1st tier | ES + CMA as 1st tier | GS after standard testing | GS as 1st tier | Standard testing | |
|---|---|---|---|---|---|---|---|
Total cost per patient, $b | 12,041 (5517–34,491) | 6357 (6179–6520) | 6755 (6597–6907) | 6985 (6851–7116) | 12,958 (6425–35,444) | 7811 (7533–8092) | 8783 (2309–31,123) |
• Cost of genome-wide sequencing, $ | 3077 | 4120 | 4590 | 4590 | 4003 | 6240 | 0 |
• Cost of other genetic tests, $ | 7116 | 780 | 769 | 1114 | 7116 | 290 | 7116 |
• Cost of genetic services, $ | 884 | 500 | 442 | 328 | 873 | 327 | 682 |
• Cost of nongenetic tests, $ | 964 | 957 | 954 | 954 | 965 | 954 | 985 |
Number of molecular diagnoses (per 1000 persons tested)b | 399 (342–462) | 413 (354–475) | 429 (331–536) | 466 (357–584) | 382 (302–462) | 460 (352–570) | 185 (119–267) |
Number of positive findings (per 1000 persons tested)b | 431 (375–492) | 457 (393–521) | 473 (378–578) | 515 (404–636) | 412 (333–491) | 509 (398–617) | 185 (119–267) |
Number of active treatment changes (per 1000 persons tested)b | 72 (45–105) | 77 (48–112) | 80 (48–122) | 87 (51–133) | 69 (43–103) | 86 (51–131) | 31 (17–51) |
