Table 2.
Summary of results
| Outcomes | No screening | Carrier screening by genotyping | Carrier screening by NGS |
|---|---|---|---|
| Population | |||
| Number of couples | 1,000,000 | ||
| Number of couples with at least one carrier | 83,421 | ||
| Couples with a single carrier | 81,964 | ||
| Couples with two carriers of the same disorder | 1457 | ||
| Affected births | 364 | 162 | 141 |
| Number of affected births averted | 0 | 202 | 223 |
| LYs gained as compared with no screening | 0 | 7918 | 8636 |
| Costs | |||
| Lifetime treatment costs of 14 recessive disorders | $415 million | $159 million | $140 million |
| ART cost + Termination cost + Traditional prenatal screening of the fetus | $0 million | $5.3 million | $4.7 million |
| Genetic screening costs | $0 | $519 million | $525 million |
| Total lifetime healthcare costs related to recessive disorders (including ART, pregnancy termination, fetal screening) | $415 million | $683 million | $670 million |
| Cost effectiveness | |||
| Cost per LY gained as compared with no screening | $33,812 | $29,498 | |
| Cost per affected birth avoided as compared to no screening | $1.33 million | $1.14 million | |
ART, assisted reproductive technology; LY, life year; NGS, next‐generation DNA sequencing.