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From newborn screening to genomic medicine: challenges and suggestions on how to incorporate genomic newborn screening in public health programs

1 Apr 2022

Abstract excerpt

Newborn screening (NBS) programs are considered among the most effective and efficient measures of secondary prevention in medicine. In individuals with medical conditions, genomic sequencing has become available in routine healthcare, and results from exome or genome sequencing may help to guide treatment decisions. Genomic sequencing in healthy or asymptomatic newborns (gNBS) is feasible and reveals clinically...

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PMID: 38836020
DOI: 10.1515/medgen-2022-2113

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