Genomic Sequencing as a Standalone Newborn Screening Tool Falls Short, But May Help Diagnose Uncertain Cases

Published August 10th, 2020 in Nature Medicine, the final paper of our NICHD/NHGRI funded “Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening” (NBSeq) examines how standard methods of screening newborns for rare disorders compare to newer, genomic based techniques. Ultimately, the study found that sequencing alone is insufficient for screening, but can be useful for interpreting unclear results from the standard screening technique, tandem mass spectrometry. See the full press release here.

As part of NBSeq, bioethicists and scientists from UCSF Bioethics and The Hastings Center published nuanced recommendations on the appropriateness of sequencing in newborns in a variety of contexts. The recommendations, along with accompanying essays, are publicly available.

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Genomic Sequencing as a Standalone Newborn Screening Tool Falls Short, But May Help Diagnose Uncertain Cases