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Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.

Daniela M DeCristoLaura V MilkoJulianne M O'DanielAnn Katherine M ForemanLonna F MollisonBradford C PowellCynthia M PowellJonathan S Berg
Published in: Genome medicine (2021)
Commercial neonatal genomic screening panels have heterogeneous content and may contain some conditions with lower actionability than would be expected for public health newborn screening; conversely, some conditions with higher actionability may be omitted from these panels. The lack of transparency about how conditions are selected suggests a need for greater detail about panel content in order for parents to make informed decisions. The nuanced activity of gene list selection for genomic screening should be iteratively refined with evidence-based approaches to provide maximal benefit and minimal harm to newborns.
Keyphrases
  • public health
  • copy number
  • pregnant women
  • genome wide
  • heart rate
  • dna methylation
  • single cell
  • body composition
  • high intensity
  • gestational age