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Chunk #29 — Genomics and the pediatric patient — Genomics and newborn health

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Genomics, personalized medicine, and pediatrics.
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in this setting for rapid turn-around of highly accurate sequence interpretation, sequence-based newborn screening might have seemed fantastical five years ago, but recent studies suggest that technical feasibility may not be far off.70 The practicalities of implementing sequencing in the context of state public health programs are extremely daunting, especially in the setting of current fiscal constraints facing public health departments. Genome-based newborn screening would also raise a thicket of ethical questions such as what information should be released to whom and when. The National Human Genome Research Institute and the Eunice Kennedy Shriver National Institute of Child Health and Human Development of the NIH have announced a joint program to fund pilot projects that explore technical, medical, and societal issues associated with augmenting traditional newborn screening approaches with sequencing.71