Newborn screening in Japan

Kikumaro Aoki1

  • 1Kagawa Nutrition University, Saitama, Japan.

Insights

Japan

Area of Science:

  • Public Health
  • Genetics
  • Pediatrics

Background:

  • Government initiatives in the 1970s aimed to address congenital diseases.
  • Mass newborn screening began in Japan in 1977, initially covering five inborn errors of metabolism.

Purpose of the Study:

  • To outline the evolution and current scope of Japan's national newborn screening program.
  • To detail the expansion of screening to include congenital hypothyroidism, congenital adrenal hyperplasia, and Wilson disease.

Main Methods:

  • Implementation of a nationwide mass screening program for newborns.
  • Periodic updates to the screening panel based on public health needs and policy changes.
  • Governmental funding model for screening tests, with parental contribution for sample collection.

Main Results:

  • The screening program has expanded from five to six diseases.
  • Government funding increased from 50% to 100% of test costs in 2001.
  • New screening for Wilson disease requires dried blood specimens from children aged 1-3 years.

Conclusions:

  • Japan's newborn screening program has evolved significantly since its inception.
  • The program demonstrates a commitment to early detection and management of congenital diseases.
  • Ongoing adjustments ensure the program remains comprehensive and responsive to public health challenges.

Related Concept Videos