Works in Progress - Winter 2019

Screened at Birth

The science of newborn gene sequencing

By Marcus Banks | December 3, 2018

Ever since Francis Collins and Craig Venter first sequenced the human genome in 2000, people who want to know more about their ancestry or their genetic predisposition toward certain diseases have had access to a powerful tool. Not surprisingly, companies like and 23andMe have flourished. But it may be that newborns have the most to gain from gene sequencing.

“This is vital information for families,” says Pankaj Agrawal, a neonatologist at Boston Children’s Hospital. The earlier we understand a person’s genetic risk for diseases, the greater the opportunity to minimize those risks. Agrawal, a researcher who studies the genetic basis of rare diseases, is part of an ambitious new project called BabySeq.

From 2015 to 2018, BabySeq enrolled more than 300 families—the majority with healthy newborns, a quarter caring for sick infants in intensive care. Half of the children received genetic sequencing and half were assigned to a control group. These genetic screenings move beyond the current “heel stick” blood test for newborns to determine which infants are potentially at risk for almost 1,000 diseases. The researchers hope to discover how clinicians modify their treatment of newborns in response to genetic screening, and how these data could guide care for infants in ICUs. They also want to understand the psychological effect on parents of knowing the genetic makeup of their young children. “We needed a study to understand how genomic technologies can make a difference” for newborns and their families, Agrawal says.

In the meantime, researchers in the United Kingdom and Canada have shown how such screenings could benefit teenagers. In a 2018 paper published in the journal Science, scientists demonstrated that genetic markers for Ewing sarcoma, a painful bone disorder that primarily affects young adults, are present years before the disease is generally diagnosed. If clinicians gained a better understanding of these markers, they could perhaps intervene earlier to prevent the disorder’s worst manifestations.

In less than two decades since the advent of genomics, researchers have come far in identifying the particular genes that cause certain disorders. This knowledge is so powerful that thorough genetic sequencing as a right of birth may become standard at some future date. The challenge for scientists is to figure out how to accomplish this in the most ethical and efficacious way possible.

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