Ethical issues surrounding newborn screening

Research output: Contribution to journalComment/debatepeer-review

Abstract

It would be difficult to overestimate the importance of persistent, thoughtful parents and their importance in the development of treatments for their children’s rare disorders. Almost a century ago in Norway, observant parents led a brilliant young physician-scientist to his discovery of the underlying cause of their children’s profound developmental delay-i.e., phenylketonuria, or PKU. Decades later, in a recovering war-ravaged Britain, an equally persistent mother pressed the scientists at Birmingham Children’s Hospital to find a way to treat her seriously damaged daughter, Sheila, who suffered from PKU. Living on the financial edge, this mother insisted that Bickel and colleagues develop such a diet, and she volunteered Sheila to be the patient in the trial. The scientists concluded that the low phenylalanine diet helped but needed to be started very early-so, newborn screening was born to permit the implementation of this. Many steps brought us to where we are today, but these courageous parents made it all begin.

Original languageEnglish (US)
Article number3
JournalInternational Journal of Neonatal Screening
Volume7
Issue number1
DOIs
StatePublished - Mar 2021

Keywords

  • Newborn screening expansion
  • Parental advocacy history
  • Recommended uniform screening panel (rusp)
  • Residual dried blood spots
  • Secretary’s advisory committee of heritable disorders in newborns and children (ACHDNC)

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Immunology and Microbiology (miscellaneous)
  • Obstetrics and Gynecology

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