Neonatal screening for sickle cell disease: a cost-effectiveness analysis.

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Sickle cell disease (SCD) is a genetic blood disorder.
• Early detection and intervention, such as penicillin prophylaxis, can prevent serious complications like pneumococcal sepsis.
• Current screening practices and their cost-effectiveness vary across different populations.

Purpose of the Study:

• To evaluate the cost-effectiveness of screening newborn infants for sickle cell disease.
• To compare two strategies: universal screening with penicillin prophylaxis versus symptomatic diagnosis with penicillin treatment.
• To analyze cost-effectiveness across diverse neonatal populations with varying hemoglobin S gene prevalence.

Main Methods:

• A decision-analytic model was developed to compare screening versus no screening strategies.
• Data on penicillin prophylaxis effectiveness, sepsis risk, and disease prevalence were sourced from published literature.
• Costs associated with screening, prophylaxis, and hospitalization were calculated using actual variable costs.

Main Results:

• For Black infants, screening and penicillin prophylaxis resulted in a cost of $3100 per life saved compared to no screening.
• Screening non-Black infants in high hemoglobin S gene prevalence populations had a cost-effectiveness of $1.4 million per life saved.
• Screening non-Black infants in low hemoglobin S gene prevalence populations was prohibitively expensive at $450 billion per life saved.

Conclusions:

• Newborn screening for sickle cell disease is highly cost-effective and recommended for Black infants.
• Screening is not justified in populations with a low prevalence of the sickle cell trait.
• Targeted screening strategies are crucial for optimizing public health resources in SCD prevention.