Neonate

Universal genetic testing has existed in the US since 1970, using Guthrie cards for neonatal screening (for up to 48 inborn errors).  But as rapid genome screening with analytical software moves closer to a practical and cost effective reality, as this piece describes at Children’s Mercy Hospital in Kansas City, MO, the value becomes increasingly apparent, especially with families where an earlier sibling has a disorder.  Using an Illumina platform and two analytical programs—one RUNES, an acronym for Rapid Understanding of Nucleotide variant Effect Software—researchers showed results in 50 hours.  While the analysis cost $27,000, the expenses of $8,000/day in a neonate ICU, plus care for shooting in the dark over months or years makes whole genome sequencing compelling.  MORE

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