New Genetic Technologies Diagnose Critically Ill Infants Within 26 Hours

In a record-breaking 26 hours, pediatricians can now scan and analyze the entire genome of a critically ill infant to find a diagnosis that can significantly alter the course of treatment.

Doctors typically run targeted genetic tests for specific diseases if they have a good guess about what’s wrong with an infant. Such tests check a few specific spots on the genome, but with more than 8000 possible genetic diseases, such tests weren’t really relevant to clinical care.

Whole-genome sequencing is a different matter entirely. These scans check for mutations at each of the 3.2 billion locations on the human genome. Remarkably, while it took $3 billion to sequence the first human genome, it can now be done for about $1000 a pop. 


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