Genomic sequencing to screen apparently healthy newborns raises more false alarms than routine blood tests, study finds

With advanced technology, clinicians can now sequence the genomes of newborn babies, seeking to turn up hidden inherited diseases that aren’t caught by routine blood testing. But new research sharpens questions about whether these tests are sufficiently accurate.

In the largest study of its kind, published Monday in the journal Nature Medicine, a team led by researchers at the University of California, San Francisco, compared sequencing data to the results from standard blood testing conducted in newborns. They found that whole exome sequencing — a sequencing technique that reads all the chemical letters in the regions of the genome that code for proteins — turned up more false positives and more false negatives for inherited metabolic disorders.

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