Genetic diseases and birth defects are the leading causes of infant mortality in the United States and are responsible for more than a third of neonatal intensive care unit admissions and more than 40% of neonatal intensive care unit deaths.1-3 For newborns who survive, hospital stays are often prolonged, diagnostic workups extensive and painful, and disease courses complicated or fluctuating. Often families must decide whether to withdraw care, an excruciating decision that is even more difficult if the cause of the condition is uncertain and the prognosis is unclear. An accurate diagnosis is critically important. A promise of precision medicine is to apply the tools of modern genomics to diagnoses for these youngest patients.
Baxter SK, King M. A Time to Sequence. JAMA Pediatr. 2017;171(12):e173435. doi:10.1001/jamapediatrics.2017.3435
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