Abstract
With the potential to screen newborns for an expanding panel of rare disorders, including conditions that are phenotypically variable or may not present until later in life, there has been increased debate about the benefits and harms of newborn screening (NBS). The concept of “benefit” has in recent years shifted from exclusively medical benefit to increasingly social benefits for an affected child and their family, including preventing a “diagnostic odyssey” and providing guidance for future reproductive decisions.
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