Tufts researchers win grant to study integration of genomic sequencing into neonatal care

Aug 16 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.

"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 Floating Hospital for Children at Tufts Medical Center, Vice Chair of Pediatric Research at Floating Hospital 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.

"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 Floating Hospital for Children 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."