Newborn screening: rationale for a comprehensive, fully integrated public health system

Area of Science:

• Public Health
• Genetics
• Pediatrics

Background:

• Newborn screening has a 40-year history.
• Initial screening focused on single disorders like phenylketonuria (PKU).
• It has evolved into a complex public health system.

Purpose of the Study:

• To review the history of newborn screening.
• To understand the evolution of newborn screening practices.
• To provide context for current challenges in the field.

Main Methods:

• Historical review of newborn screening.
• Analysis of the conceptual evolution of screening programs.
• Examination of the components of modern newborn screening systems.

Main Results:

• Newborn screening has transformed significantly over four decades.
• The scope has expanded from single-disorder testing to a multi-faceted public health approach.
• Current screening encompasses education, diagnostics, treatment, and evaluation.

Conclusions:

• Newborn screening is a model for predictive medicine.
• The program faces critical challenges impacting its future.
• Historical context is essential for navigating these challenges and ensuring continued viability.