Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease.

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening identifies serious conditions needing early intervention.
• Decisions on screening inclusions are complex due to incomplete data.
• Pompe disease is a rare condition where early detection improves outcomes.

Purpose of the Study:

• To describe expected outcomes of Pompe disease newborn screening.
• To explain how decision analysis informed federal advisory committee recommendations.

Main Methods:

• A decision tree model compared newborn screening versus clinical identification for Pompe disease.
• Cases were classified into classic infantile-onset, nonclassic infantile-onset, and late-onset Pompe disease.
• Data from published literature, unpublished sources, and expert opinion were used.

Main Results:

• Screening 4 million US newborns annually would detect 40 infantile-onset Pompe disease cases.
• Newborn screening would identify 94 late-onset Pompe disease cases.
• By 36 months, screening would avert 13 deaths and decrease mechanical ventilation by 26 cases.

Conclusions:

• Pompe disease newborn screening can significantly improve health outcomes.
• Decision analytic modeling provided crucial data for recommending Pompe disease screening.