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Clues and Questions

Genomic sequencing of infants may clue parents and physicians into a baby's medical condition, but it also raises technical and ethical issues about what information children and parents should receive, the Kansas City Star writes.

Kansas City's Children's Mercy Hospital is one of four centers in the US exploring how to best apply newborn sequencing — how it compares to traditional tests, how sequencing affects children's care, and how sequencing affects the parent-child relationship.

"Just because it's inexpensive doesn't mean it's the best way to go. There is a need to look at what the concerns are and is it appropriate to do," Tiina Urv, program director for the Eunice Kennedy Shriver National Institute of Child Health and Human Development, tells the Star.

In the case of Kira Walker, the Star reports that sequencing her genome was able to home in on a genetic variant that made her pancreas over-produce insulin, bringing her blood sugar levels perilously low. Doctors then removed a portion of her pancreas so that a normal level of insulin was produced. Other tests and medications had been ineffective, the Star adds.

But, sequencing can also catch variants linked to adult-onset diseases like Huntington's disease as well as variants whose effects are not clear, leading researchers to wonder whether that's something parents want or need to know.

The University of North Carolina-Chapel Hill arm of the project is exploring just that, asking parents to choose from a long list what sort of information they'd want to know. In addition, UNC is being stringent about how it calls variants and will only report out ones they are confident that are linked to disease.

But, sequencing doesn't necessarily mean answers, the Star reports. Children's Mercy researchers reported recently that they were able to diagnose 20 out of 35 children, leading to significant treatment changes in 13 cases. In most cases, it adds, there was no available treatment, and half the babies died within 120 days.

Still, "[u]ntil the hospital started this program, most of these children wouldn't have gotten a diagnosis and would have died without one," Stephen Kingsmore, the director of Children's Mercy genomics program, adds.