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Newborn screening in North America

  • Newborn Screening
  • Published:
Journal of Inherited Metabolic Disease

Summary

Newborn screening in North America dates to the early work of Bob Guthrie in the USA. Screening programmes in both the USA and Canada began in the early 1960s, with documented programmes in both countries as early as 1962. Throughout the 1960s and 1970s, many of the screening tests that later became part of routine screening around the world were developed in US and Canadian laboratories, including tests for phenylketonuria, other inborn errors of metabolism, congenital hypothyroidism, congenital adrenal hyperplasia, and haemoglobinopathies. An automated punching machine developed in the USA facilitated screening expansion by significantly reducing sample preparation time and effort. US and Canadian programmes were leaders in applying computerized data management to newborn screening in the 1980s. In the 1990s, DNA and tandem mass spectrometry testing protocols were developed in the USA and applied to newborn screening. US programmes have continually expanded over time, while most Canadian programmes have not. With impetus from private laboratories and professional and consumer groups, many US programmes now screen for more than 50 conditions and there is increased expansion activity in Canada. NBS research in the USA is focused on improving system efficiency and translating other genetic testing to NBS, particularly where new technologies and treatment therapies exist. Although national newborn screening policies do not exist in either Canada or the USA, there are intense efforts to provide uniform access to screening nationwide in both countries. New partnerships between health professionals, consumers and politicians are benefiting the overall screening systems in both countries.

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Authors and Affiliations

  1. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA

    Bradford L. Therrell

  2. National Newborn Screening and Genetics Resource Center, 1912 W. Anderson Lane #210, Austin, TX, 78757, USA

    Bradford L. Therrell

  3. Canadian Organization for Rare Disorders, Toronto, Ontario, Canada

    John Adams

  4. OZ Systems International, Sarl, Toronto, Ontario, Canada

    John Adams

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  1. Bradford L. Therrell
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  2. John Adams
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Correspondence to Bradford L. Therrell.

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Communicating editor: Rodney Pollitt

Competing interests: None declared

References to electronic databases:http://www2.uthscsa.edu/nnsis; http://genes-r-us.uthscsa.edu/nbsdisorders.htm; http://genes-r-us.uthscsa.edu.edu/CA_nbsdisorders.pdf.

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Therrell, B.L., Adams, J. Newborn screening in North America. J Inherit Metab Dis 30, 447–465 (2007). https://doi.org/10.1007/s10545-007-0690-z

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