Preimplantation genetic testing for sickle cell disease: a cost-effectiveness analysis

• Main Authors: Joshua C. Combs, M.D (Author), Maura Dougherty, M.S (Author), Meghan U. Yamasaki, D.O (Author), Alan H. DeCherney, M.D (Author), Kate M. Devine, M.D (Author), Micah J. Hill, D.O (Author), Erin Rothwell, Ph.D (Author), Jeanne E. O'Brien, M.D (Author), Richard E. Nelson, Ph.D (Author)
• Format: Book
• Published: Elsevier, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2666-3341; 10.1016/j.xfre.2023.06.001
• Keywords: Cost; sickle cell disease; PGT-M; Diseases of the genitourinary system. Urology; RC870-923; Gynecology and obstetrics; RG1-991
• Source: F&S Reports, Vol 4, Iss 3, Pp 300-307 (2023)

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. Patient(s): A hypothetical cohort of 10,000 patients was analzyed over a lifetime horizon using yearly cycles. Intervention(s): In vitro fertilization with preimplantation genetic testing for monogenic disease use in conception of a non-SCD individual. Main Outcome Measure(s): 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. Result(s): 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. Conclusion(s): 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.