Table 2.
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.