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Researchers receive NIH award to integrate targeted genomic sequencing into neonatal diagnosis and care

08/15/2018
Tufts Medical Center researchers have received a five-year grant award for more than $8 million from the National Center For Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) to study the integration of targeted genomic sequencing into neonatal diagnosis and care. Funding for the national clinical trial, “Precision Medicine in the Diagnosis of Genetic Disorders in Neonates,” begins today.

The first-of-its-kind, six-site NCATS Trial Innovation Network study will recruit 400 newborns with a wide variety of possible genetic disorders, but who were unable to receive a diagnosis using standard testing. Each infant will receive whole genome sequencing, as well as targeted genomic sequencing, which analyzes 1,722 genetic disorders known to affect newborns. The researchers will then compare the two approaches for accuracy and effectiveness in identifying genetic disorders, and determine whether the targeted panel, which is being developed in conjunction with Quest Diagnostics, can be safely integrated into newborn care. 

Dr. Jill Maron, MIRI Principal Investigator and Neonatologist at Tufts Medical Center.“When a newborn’s entire genome is sequenced, unintended information may be learned, including potential issues that could affect the child later in life,” said Jill Maron, MD, Executive Director of the Mother Infant Research Institute at Tufts Medical Center at Tufts Medical Center, Vice Chair of Pediatric Research at Tufts Medical Center and Co-Principal Investigator of the study. “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.”

The study also will conduct statistical and health economic analyses to determine if, and how much, targeted genomic testing would save the health care system if it is integrated into newborn care. Since targeted screening is much less costly than sequencing the whole genome, there is potential for substantial health savings and a new, improved standard of care.

Jonathan Davis, MD is the Chief of the Division of Newborn Medicine at Tufts Medical Center in downtown Boston, MA.“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,” said Jonathan Davis, MD, Chief of Newborn Medicine at Tufts Medical Center at Tufts Medical Center and Co-Principal Investigator of the study. “We hope this innovative precision medicine approach to diagnosis and treatment of fragile newborns allows us to care for these infants in a faster, cheaper and better way.”

Additional study sites include Rady Children’s Institute for Genomic Medicine in San Diego, Mt. Sinai Hospital, University of North Carolina-Chapel Hill, Cincinnati Children’s Hospital and the University of Pittsburgh.

The study is supported by the National Center For Advancing Translational Sciences of the National Institutes of Health under Award Number U01TR002271.

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About Tufts Medical Center
Tufts Medical Center is an exceptional, not-for-profit, 415-bed academic medical center that is home to both a full-service hospital for adults and Tufts Medical Center. Conveniently located in downtown Boston, the Medical Center is the principal teaching hospital for Tufts University School of Medicine. The Medical Center features a level one trauma center with rooftop helipad, the largest heart transplant center in New England and a renowned research program, ranking among the top 10 percent of independent hospitals to receive federal research funding. A physician network of 1,800 New England Quality Care Alliance doctors represents our strong commitment to health in the community. Tufts Medical Center is a founding member of Wellforce, along with Circle Health and Hallmark Health. For more information, visit www.tuftsmedicalcenter.org.