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

Area of Science:

• Reproductive Medicine
• Medical Genetics
• Health Economics

Background:

• Sickle cell disease (SCD) presents a significant lifelong health and economic burden.
• Standard care for SCD involves managing symptoms and complications throughout a patient's life.
• Preventive strategies aim to reduce the incidence of genetic disorders like SCD.

Purpose of the Study:

• To evaluate the cost-effectiveness of IVF + PGT-M for preventing SCD.
• To compare the lifetime costs and health outcomes of IVF + PGT-M conception versus standard care for SCD.

Main Methods:

• A Markov simulation model was developed to compare one-time IVF + PGT-M with lifetime standard care for SCD.
• Quality-adjusted life years (QALYs) and life years gained were calculated using a 3% discount rate.
• Cost-effectiveness was assessed against a willingness-to-pay threshold of $50,000 per QALY.

Main Results:

• IVF + PGT-M was the optimal strategy in 93.17% of model iterations.
• This strategy demonstrated incremental savings of $137,594 and a gain of 1.96 QALYs and 3.69 life years.
• Sensitivity analysis confirmed that standard care never achieved equivalent cost-effectiveness.

Conclusions:

• IVF + PGT-M for SCD prevention is the most cost-effective strategy in the US healthcare system.
• This approach significantly improves long-term health outcomes and reduces overall healthcare costs.
• The findings support the adoption of IVF + PGT-M as a primary preventive measure for SCD.