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Genomic Sequencing for Newborns Studied in Clinical Trial


(Petr Kratochvil, Public Domain Pictures)

16 August 2018. A group of newborn infants with genetic disorders that went undetected in standard testing will receive genomic sequencing in a clinical study of its safety and feasibility. The study is led by a team at Tufts University Medical Center in Boston, and conducted at another 5 sites in the U.S., supported by a 5-year, $8 million grant from National Center for Advancing Translational Science, or NCATS, part of National Institutes of Health.

The clinical trial, beginning this week, is an extension of NCATS’s Trial Innovation Network established to encourage innovations in clinical studies. In this case, the study aims to discover ways of safely and effectively integrating genomic sequencing into the standard diagnostics conducted with newborns. The trial is recruiting 400 newborns with potential genetic disorders that were not detected in standard screenings. The infants will receive whole genomic sequencing, as well as targeted genomic tests for 1,722 inherited disorders known to affect newborns, developed with Quest Diagnostics, a nationwide network of medical labs.

Results from the two sets of genomic tests will then be analyzed for accuracy and effectiveness, as well as the safety and feasibility of integrating these tests into standards of care for newborns. Jill Maron, one of the lead investigators in the study and executive director of the Mother Infant Research Institute at Tufts, notes in a statement that both whole and targeted sequencing come with their advantages and drawbacks. “When a newborn’s entire genome is sequenced,” says Maron, “unintended information may be learned, including potential issues that could affect the child later in life.”

She adds, however, “Since the targeted panel only screens for genetic disorders that appear in the newborn stage and can be addressed immediately, its use would eliminate any ethical dilemmas for physicians and avoid burdening families with information on adult onset diseases they may not want to know about.” Maron’s lab at Tufts studies gene expressions in newborns from saliva samples that can be readily taken from infants, even the tiniest premature newborns.

One of the study’s objectives is to evaluate economic benefits of whole versus targeted genomic sequencing of newborns. The researchers plan to gather and analyze statistics on targeted versus the more expensive whole genome sequencing, and estimate the benefits from incorporating these techniques into standard newborn diagnostics, including financial savings. Jonathan Davis, chief of newborn medicine at Tufts children’s hospital and co-lead investigator of the study says, “This study is a unique opportunity to dramatically improve outcomes for newborns with a genetic disorder by drastically speeding up the time to a diagnosis and treatment, while simultaneously lowering the cost of care.”

Other institutions taking part in the study are Rady Children’s Institute for Genomic Medicine in San Diego, Mt. Sinai Hospital in New York, University of North Carolina in Chapel Hill, Cincinnati Children’s Hospital, and University of Pittsburgh.

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