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Updated: Jul 3, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis
Joshua C Combs1,2, Maura Dougherty3, Meghan U Yamasaki1,2
1Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland.
Objective:
To evaluate the cost-effectiveness of in vitro fertilization with preimplantation genetic testing for monogenic disease (IVF + PGT-M) in the conception of a nonsickle cell disease (non-SCD) individual compared with standard of care treatment for a naturally conceived, sickle cell disease (SCD)-affected individual.
Design:
A Markov simulation model was constructed to evaluate a one-time IVF + PGT-M treatment compared with the lifetime standard of care costs of treatment for an individual potentially born with SCD. Using an annual discount rate of 3% for cost and outcome measures, quality-adjusted life years were constructed from utility weights and life expectancy values and then used as the effectiveness measurement. An incremental cost-effectiveness ratio was calculated for both treatment arms, and a willingness-to-pay threshold of $50,000 per quality-adjusted life year was assumed.
Setting:
Tertiary care or university medical center.
Patients:
A hypothetical cohort of 10,000 patients was analzyed over a lifetime horizon using yearly cycles.
Interventions:
In vitro fertilization with preimplantation genetic testing for monogenic disease use in conception of a non-SCD individual.
Main Outcome Measures:
The primary outcomes of interest were the incremental cost and effectiveness of an IVF+PGT-M conception compared with the SOC treatment of an SCD-affected individual.
Results:
In vitro fertilization with preimplantation genetic testing for monogenic disease was the optimal strategy in 93.17% of the iterations. An incremental savings of $137,594 was demonstrated with a gain of 1.96 QALYs and 3.69 life years over a lifetime. Sensitivity analysis demonstrated that SOC treatment never met equivalent cost-effectiveness.
Conclusions:
Our model demonstrates that IVF + PGT-M for selection against SCD, compared with lifetime SOC treatment for those affected, is the most cost-effective strategy within the United States healthcare sector.
