Table 1.
Key parameters, assumptions, modeling approaches, and sources
| Model parameter | Assumptions and approaches | Sources |
|---|---|---|
| Decisions related to carrier screening | ||
| Decisions of couples identified as carriers during preconception screening |
Probability of conceiving at risk and screening the fetus postconception: 50% (46–54%) Probability of pursuing assisted reproductive technology (egg/sperm donor or IVF with PGD): 30% (25–35%) Not pursue conception: 20% (11–29%) |
Snowdon and Green (1997) |
| Decision of couples identified as carriers during prenatal carrier screening | To screen fetus: 80% (50–100%) | Rowley et al. (1998) |
| Decision following identification of affected fetus | To terminate pregnancy: 75% (50–100%) | Rowley et al. (1998), Brock (1996), Scotet et al. (2000, 2003) |
| Decision following identification of a carrier in one partner | To screen partner: 85% (50–100%) | Rowley et al. (1998), Radhakrishnan et al. (2008) |
| Population characteristics | ||
| Ethnic distribution |
Non‐Hispanic White: 65% Hispanic: 16% African American: 12% Asian: 5% Ashkenazi Jewish: 2% |
American Congress of Obstetricians and Gynecologists (2009) |
| Mutation carrier rate | See Appendix S1 | American Congress of Obstetricians and Gynecologists (2011), Scott et al. (2010), Amos et al. (2006), Chou et al. (2002), Kaback and Desnick (1999) |
| Life expectancy | ||
| Life expectancy of healthy offspring | Based on United States Life Tables from the Centers for Disease Control and Prevention | Arias (2014) |
| Life expectancy of affected offspring | See Appendix S1 | |
| Costs | ||
| Carrier screening (both NGS and genotyping) | $500 ($300–$800) | Averaged from an author survey of U.S. commercial genetic test providers |
| Pregnancy termination | $2614 ($1960–$3267) | Rowley et al. (1998) |
| Assisted reproductive technology | $41,132 ($30,489–$51,415) | Brock (1996): based on the utilization weighted cost of the typical number of IVF cycles required for a live birth (fresh transfers, frozen‐thawed transfers, and associated medication costs), ICSI, assisted hatching, blastocyst culture, and cryopreservation. |
| Fetal screening | $1500 ($1000–$2000) | Song et al. (2013), Benn et al. (2013), Garfield and Armstrong (2012) |
| Test performance | ||
| Genotyping detection rates and NGS mutation detection rates | See Appendix S1 | Scott et al. (2010), Counsyl (2010), Ben‐Yosef et al. (2003), Edelmann et al. (2002), Ekstein et al. (2004), Heim et al. (2001), Ki et al. (2004), Ness et al. (2003), Nestorowicz et al. (1996), Park et al. (2010) |
ICSI, intracytoplasmic sperm injection; IVF, in vitro fertilization; NGS, next‐generation DNA sequencing; PGD, preimplantation genetic diagnosis.