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Not Always the Best Test

The uptake of newborn genome sequencing hasn't been as swift or widespread as some anticipated, partly for practical reasons, NPR reports.

A few years back, researchers had predicted that newborn genome sequencing would soon be incorporated into infant care. But as NPR notes, researchers have since found that tests like heel pricks are better at identifying metabolic disorders like phenylketonuria than gene sequencing is, as multiple genetic mutations — including some yet-to-be-discovered ones — cause disease and as harboring one doesn't mean the person will always develop the condition.

Additionally, NPR notes that newborn sequencing raises questions for parents, such as whether they want to learn conditions an infant might be at risk of developing later in life, whether they have the right to know another person's genetic information, and whether it could affect the child's later insurability.

Researchers are split, NPR adds. Some argue that learning a person's risk of disease early would be helpful in managing those conditions and others note that such testing isn't widely covered by insurance and would only be available to the well off, it says. It notes, though, that researchers said sequencing could be helpful in instances where a child is sick and a reason for it cannot be determined.