Table 2.
Studies of the cost effectiveness of URGS and RGS in seriously ill children in intensive care units
| Ref. | Year | Country | Number of probands | Dx rate | Δ Mx | RGS cost per proband | Cost per Dx | TAT | Net savings per proband |
|---|---|---|---|---|---|---|---|---|---|
| 53 | 2018 | USA | 42 | 43% | 33% | $16,063 | $37,480 | 23 | $18,741 |
| 73 | 2021 | USA | 184 | 40% | 32% | $9239 | $23,602 | 3 | $6294 |
| 6 | 2022 | USA | 61 | 33% | n.d. | $9758 | $29,570 | n.d. | $11,286 |
| 93 | 2022 | USA | 38 | 45% | 34% | $6300 | $14,082 | 14 | ($1436) |
| 80 | 2022 | USA | 65 | 40% | n.d. | $11,029 | $27,573 | 12 | $100,440 |
| 94 | 2022 | Australia | 40 | 53% | 39% | $8088 | $15,406 | 3 | $17,243 |
| 82 | 2023 | USA | 89 | 39% | 27% | $7564 | $19,395 | n.d. | $4155 |
| 95 | 2023 | USA | 184 | 40% | 32% | $14,450 | $36,125 | 3 | $22,395 |
| 83 | 2023 | USA | 400 | 49% | n.d. | $8000 | $16,326 | 6 | n.d. |
| Median | 40% | 33% | $9239 | $25,588 | $6 | $14,265 | |||
| Controls | |||||||||
| 80,97 | 2011, 2022 | USA | 2098 | 13% | 6% | $1887 | $14,515 | n.d. | n.d. |
| 72,83 | 2021, 2023 | USA | 400 | 27% | n.d. | $6500 | $24,074 | 4 | n.d. |
Control study 75 featured 305 infants who received standard of care genetic testing for suspected genetic diseases (57% received chromosomal microarray ($1500), karyotype ($600) and newborn screening ($210), 31% received chromosomal microarray and newborn screening, and 1% received next generation sequencing based gene panels). Control study 78 featured 400 infants who received Quest NewbornDx, a next generation sequencing based gene panel.
Δ change, Dx diagnosis, Mx management, n.d. not done, TAT turnaround time.