Pioneering studies show promise in sequencing a baby’s genome at birth

From the article:

Free of charge, parents in North Carolina can have experts conduct a more extensive scan and review their baby’s entire genetic blueprint for 200 different conditions. One is Pendred syndrome, a condition not covered by the standard, more limited newborn screening.

Researchers in North Carolina and New York are studying whether this far more comprehensive approach can save lives and improve children’s health. Two decades after scientists sequenced the first human genome, the two studies reflect the rapid emergence of a new kind of health care called genomic medicine, spawned by that landmark achievement.

Early results show that genome sequencing is identifying conditions not disclosed through the traditional newborn screening required by all 50 states. Since the study in North Carolina began in September 2023, researchers have examined the genomes of more than 1,800 babies; 40 were deemed likely to have medical conditions that were not previously diagnosed. One newborn was flagged as likely to have two previously undiagnosed conditions.

“Some of those were for potentially life-threatening conditions,” said Holly Peay, lead investigator for the Early Check program led by RTI International.

Since launching the GUARDIAN program with its collaborators in September 2022, New York State has sequenced the genomes of more than 10,000 babies; 299 tested positive for one of the 450 conditions the state has focused on.

“For one child, it was even lifesaving,” said Wendy Chung, head of pediatrics at Boston Children’s Hospital, who is leading New York’s study.

Existing newborn screening programs, which vary state to state and are credited with saving or improving the lives of about 12,000 babies a year, are expected to continue for the foreseeable future, experts said.

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In the last two decades, the cost of reading the entire genome, not just the protein-coding parts, has plunged from more than $10 million a patient to about $1,000. Today, the cost is akin to that of routine medical tests, such as colonoscopies and MRI scans.

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Among the most challenging issues raised by sequencing newborns: whether parents should be informed of mutations linked to incurable diseases that do not begin until adulthood. For now, the study in North Carolina does not inform parents of such a finding, reasoning it should be up to the person with the mutation to make that decision when they reach adulthood.

Early Check is allowing parents to choose whether they wish to know their child’s risk for Type 1 diabetes, an illness that is treatable. Parents are also given the option of learning about mutations linked to more than two dozen rare diseases that are not currently treatable but have treatments under investigation.

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In California, a 23-month pilot study called Project Baby Bear examined use of rapid genome sequencing for critically ill babies covered by Medicaid. The technology helped to diagnose 76 of the 178 babies sequenced in the study, resulting in treatment changes for 55 babies. The rapid diagnoses, generally done in less than two weeks, also allowed doctors to discharge babies sooner.
The result: a total of 513 fewer days spent in the hospital, 11 fewer major surgeries and an overall health-care savings of more than $2.5 million.