Newborn Screening in Japan-2021.

Area of Science:

• Biomedical screening
• Public health initiatives
• Metabolic disorder detection

Background:

• Japan initiated national Newborn Mass Screening (NBS) in 1977.
• Initial focus included amino acid metabolism disorders like phenylketonuria (PKU) and galactosemia.
• Histidinemia screening was part of the program but discontinued in 1993.

Discussion:

• The NBS program represents a significant national public health project.
• Early detection of metabolic disorders is crucial for timely intervention.
• Programmatic adjustments, like discontinuing histidinemia screening, reflect evolving public health priorities.

Key Insights:

• The long-standing NBS program in Japan demonstrates a commitment to infant health.
• Screening for phenylketonuria and galactosemia remains a core component.
• The evolution of the NBS program highlights adaptability in public health policy.

Outlook:

• Continued evaluation of screening protocols for metabolic disorders.
• Potential expansion or refinement of NBS based on scientific advancements.
• Sustaining national screening programs for early disease detection in newborns.