Genome sequencing of newborns

This is coming, Genome Sequencing in Babies to Begin as Part of Study, with high risk cases first:

Stephen F. Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy and a leader of the study, says he expects any expanded program of newborn genome sequencing to be applied to some of the approximately 14% of the four million babies born in the U.S. each year who are admitted to neonatal intensive care units. Genome sequencing can be helpful when babies don’t exhibit typical symptoms of known diseases or have rare or unknown genetic conditions, he says.

There is “strong logic and good evidence that in acutely ill babies this makes sense. It is not clear at all it makes sense in a healthy baby,” Dr. Kingsmore says.

Right now I agree that the benefits for sequencing high risk newborns seems much more obvious than for healthy infants. But it’s just a matter of time that longitudinal studies will want to include healthy infants, who after all have varying degrees of later-in-life risks with heritable components. Speaking of which:

But Nicholas Catella, an engineer from Jamaica Plain, Mass., says he wouldn’t be interested in newborn screening unless his child’s health was at acute risk. Mr. Catella, who has two children, ages 3 years and 16 months, says sequencing might reveal information about health risks like Alzheimer’s disease, which occurs later in life and for which effective interventions aren’t yet available. In the case of his healthy children, “I would need a good reason to want that information,” he says.

This is a common objection. But the issue really isn’t new, it began when people developed tests for Huntington’s disease. What’s the benefit in knowing your child is highly likely to develop a fatal disease by the time they’re 50 for which there is no viable cure for? It’s a matter of choice, but it strikes me that knowing your risk of dying at a particular time would change your life calculations a great deal. Many people live full lives by the time they’re 50.

Posted in Uncategorized

Comments are closed.