Should all babies have their genomes sequenced at birth? The question has been hotly debated for the past 15 years. Unlocking the genome’s 3.2-billion-letter code promises understanding of both health and disease. But practical and ethical challenges loom large.
But what if we could identify newborns at risk of serious, but treatable, rare diseases before they became unwell? This idea is not new. The first newborn screening test was developed by Robert Guthrie in the 1960s. Blood obtained by pricking a baby’s heel was collected on filter paper and tested for phenylketonuria, a rare metabolic condition that, if untreated, causes intellectual disability. Since then, newborn screening programs have grown to incorporate multiple biochemical markers.
It is important to remember that all screening programs inevitably cause harms. These can be at the individual level, such as disruption of parent-child bonding, or it can be at the system level, by diverting resources from diagnostic services. Perhaps most importantly, introducing genomics into newborn screening requires careful consideration of equity.