NEW YORK (GenomeWeb) – Tufts Medical Center (TMC) announced this week that it and collaborators have been awarded a five-year National Institutes of Health grant worth more than $8 million to conduct a prospective trial evaluating the clinical and economic benefits of targeted next-generation sequencing in the diagnosis and care of infants with genetic disorders.
The study will enroll 400 neonates who are at high risk for genetic diseases but have not received a definitive diagnosis. Each newborn will receive whole-genome sequencing (WGS) and targeted genomic sequencing (TGS) — which will use a multiplexed panel being developed with Quest Diagnostics — to identify any of more than 1,700 genetic disorders.
The WGS and TGS results will then be compared with standard diagnostic procedures, with study investigators evaluating the time to diagnosis, time to initiation of appropriate treatment or palliative care, and total costs associated with each approach. Statistical and health economic analyses will also be conducted to determine if and to what extend TGS could cut healthcare costs if integrated into neonatal 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," Jonathan Davis, chief of newborn medicine at TMC's Floating Hospital for Children and a co-principal investigator of the study, said in a statement. "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."
Funding is being provided by the NIH's National Center For Advancing Translational Sciences. In addition to TMC, study sites include Rady Children's Institute for Genomic Medicine, Mt. Sinai Hospital, University of North Carolina-Chapel Hill, Cincinnati Children's Hospital, and the University of Pittsburgh.