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Robert Guthrie and the Trials and Tribulations of Newborn Screening

1
Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA
2
Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
Int. J. Neonatal Screen. 2021, 7(1), 5; https://doi.org/10.3390/ijns7010005
Received: 29 December 2020 / Revised: 14 January 2021 / Accepted: 15 January 2021 / Published: 19 January 2021
(This article belongs to the Special Issue History, Present and Future of Neonatal Screening)
Routine newborn screening for many disorders is now so ingrained in newborn care that there is no question about whether it should be done. However, acceptance of newborn screening was not guaranteed when Robert Guthrie introduced it for phenylketonuria (PKU). This article describes the professional and personal story of Guthrie, a physician and microbiologist, who veered from cancer research to a commitment to prevent intellectual disability from PKU. It recounts how Guthrie was able to overcome strong opposition to mandatory screening from prominent physicians and medical societies, so that newborn screening for PKU would be routinely performed throughout the developed world, and would eventually form the basis for the (much more) comprehensive screening conducted today. View Full-Text
Keywords: Guthrie; newborn screening; phenylalanine; filter paper blood specimen; tribulations Guthrie; newborn screening; phenylalanine; filter paper blood specimen; tribulations
MDPI and ACS Style

Levy, H.L. Robert Guthrie and the Trials and Tribulations of Newborn Screening. Int. J. Neonatal Screen. 2021, 7, 5. https://doi.org/10.3390/ijns7010005

AMA Style

Levy HL. Robert Guthrie and the Trials and Tribulations of Newborn Screening. International Journal of Neonatal Screening. 2021; 7(1):5. https://doi.org/10.3390/ijns7010005

Chicago/Turabian Style

Levy, Harvey L. 2021. "Robert Guthrie and the Trials and Tribulations of Newborn Screening" International Journal of Neonatal Screening 7, no. 1: 5. https://doi.org/10.3390/ijns7010005

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