From a single child to uniform newborn screening: My lucky life in pediatric medical genetics

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1 Scopus citations

Abstract

Mike, a memorable young patient with untreated phenylketonuria, as well as others affected by genetic disorders that could be treated if diagnosed in infancy, launched my six-decade career. This autobiographical article reflects on my childhood, early research, and professional experiences in pediatric genetics. My laboratory research focused on inborn errors of metabolism, including the glycogen storage diseases. My effort to organize newborn screening through the recommended uniform screening panel shaped and standardized newborn screening nationwide. Looking ahead, the expansion of whole-genome and whole-exome sequencing into newborn screening raises ethical and policy issues regarding informed consent procedures and the storage and use of residual blood spots.

Original languageEnglish (US)
Pages (from-to)1-14
Number of pages14
JournalAnnual Review of Genomics and Human Genetics
Volume19
DOIs
StatePublished - Aug 31 2018

Keywords

  • autobiography
  • glycogen storage diseases
  • medical genetics
  • muscular dystrophy
  • newborn screening
  • pediatric genetics
  • phenylketonuria

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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