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Genomic Sequencing as a Standalone Newborn Screening Tool Falls Short

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With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.

Now, scientists from UC San Francisco, UC Berkeley and Tata Consultancy Services are offering the first comprehensive assessment of how sequencing stacks up to the older screening technology, tandem mass spectrometry (MS/MS), that California uses to analyze the blood spots taken at birth for rare disorders, known as inborn errors of metabolism. They found that, when used alone, sequencing comes up short, missing some sick babies, while flagging ...