Pediatricians' attitudes toward expanding newborn screening

Area of Science:

• Medical Genetics
• Pediatric Screening
• Public Health Policy

Background:

• Traditional newborn screening targets conditions with early treatment benefits.
• Wilson and Jungner criteria established standards for justifying population screening.
• Current programs consider expanding screening beyond established criteria, prompting investigation into physician attitudes.

Purpose of the Study:

• To examine pediatricians' and pediatric subspecialists' attitudes towards expanding newborn screening.
• To assess support for screening cystic fibrosis (CF), Duchenne muscular dystrophy (DMD), fragile X, and type 1 diabetes.
• To identify factors influencing these attitudes.

Main Methods:

• A cross-sectional survey of 600 pediatricians from relevant American Academy of Pediatrics sections.
• Inquiry into attitudes on testing high-risk infants, newborn screening, and broader population screening.
• Collection of demographic data and analysis of correlations with screening support.

Main Results:

• Over 75% supported testing high-risk infants for most conditions, except type 1 diabetes.
• Cystic fibrosis (CF) was the only condition with >50% support for newborn screening.
• Physicians' personal willingness to screen their own infant strongly correlated with their support for population-based newborn screening.

Conclusions:

• Physicians generally support diagnostic testing for high-risk infants.
• Support for expanding newborn screening is limited, especially for conditions not meeting traditional criteria.
• Personal inclination towards screening one's own child is a key determinant of support for expanded newborn screening programs.