Abstract

As the technology of newborn screening (NBS) rapidly advances, it is becoming possible to screen for increasingly complex disorders, which often have broad phenotypic spectra, variable ages of onset, and involve prognostic uncertainty. This directly challenges the Wilson and Jungner criteria that have guided NBS expansion up to this point, leading to significant debate about the ethical implications of NBS for complex disorders. There is an increasing recognition that social benefits for the family unit, including the power to emotionally prepare for treatment and the ability to make reproductive decisions, should be considered in an assessment of the benefits and harms of NBS.

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