Abstract
In a recent article in in Science Translational Medicine , Knoppers et al. bring to light issues surrounding a potential shift in newborn screening (NBS)3 programs from biochemical assays to sequencing (1). As the cost of whole-genome sequencing (WGS) falls, genetic testing of all newborns is increasingly a fiscal option. This proposition is exciting, terrifying, or both, depending on your perspective. The initial and current tenant of NBS programs is to benefit the “best interests of the child.” Testing has been intentionally limited to detection of severe health conditions for which early treatment improves morbidity or mortality. Because NBS is currently well accepted by society as being fully for the well-being of the child and the family, testing is completed with no explicit consent from parents. If this testing is expanded to WGS, however, studies show that some parents may …
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