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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Updated: Jul 13, 2026

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
19:15

Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale

Published on: August 25, 2014

Newborn screening in North America.

Bradford L Therrell1, John Adams

  • 1Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA. therrell@uthscsa.edu

Journal of Inherited Metabolic Disease
|July 24, 2007
PubMed
Summary

North American newborn screening, pioneered in the USA, began in the 1960s. While US programs have expanded significantly, Canada is now increasing its screening efforts for various genetic disorders.

Area of Science:

  • Medical Genetics
  • Public Health
  • Biochemistry

Background:

  • Newborn screening (NBS) in North America originated in the USA in the early 1960s, with Canada also establishing programs concurrently.
  • Key diagnostic tests for conditions like phenylketonuria, congenital hypothyroidism, and hemoglobinopathies were developed in US and Canadian labs during the 1960s and 70s.

Observation:

  • Technological advancements, including automated sample preparation and computerized data management in the 1980s, significantly enhanced NBS efficiency.
  • The 1990s saw the integration of DNA testing and tandem mass spectrometry into NBS protocols, primarily in the USA.
  • US NBS programs have shown continuous expansion, screening for over 50 conditions, whereas Canadian programs have historically lagged but are now increasing their scope.

Findings:

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  • US and Canadian laboratories were instrumental in developing foundational NBS technologies and methodologies.
  • The USA has led in adopting advanced screening technologies and expanding the number of screened conditions.
  • Despite the absence of national NBS policies, both countries are actively pursuing nationwide uniform access to screening.

    • Implications:

    • Ongoing research in the USA focuses on improving NBS system efficiency and incorporating broader genetic testing.
    • New partnerships are fostering advancements in NBS systems across both nations.
    • Increased expansion activity in Canada suggests a growing commitment to comprehensive newborn screening.