Press Releases

September 04, 2013

Brigham and Women's Hospital Awarded $6 Million to Study Genome Sequencing in Newborns

Boston, MA - Parents of some Boston-area newborns may have a rare opportunity to have their baby's DNA completely analyzed as part of the first-ever randomized trial to explore the benefits and risks of genome sequencing (reading the entirety of a person's DNA) in this age group.  The five-year study, which is pending approval by the hospital board that governs human research, will assess the baby's risks of future diseases and how that information affects the baby's medical care, and the relationship between the parents, baby and baby's pediatrician.  The study is funded by a $6 million grant from the National Institutes of Health to Brigham and Women's Hospital and Boston Children's Hospital.  The study will be led equally by principal investigators Robert C. Green, MD, MPH at Brigham and Women's Hospital and Alan H. Beggs, Ph.D. at Boston Children's Hospital, both faculty at Harvard Medical School.

"This first-of-its-kind study will accelerate the use of genomics in clinical pediatric medicine by creating and safely testing novel methods for integrating sequencing into the care of newborns," said Green, a medical geneticist in the Division of Genetics at Brigham and Women's Hospital and director of the Genomes2People Research Program.  "We will implement and study a futuristic goal: that genomic information examined shortly after birth can serve as a resource throughout infancy and childhood to inform clinical care and identify appropriate and timely interventions."

If approved by the research board, the study will begin in early 2014 and will enroll 480 newborns and their parents in order to compare outcomes that occur when genomic newborn sequencing is added to the conventional newborn screening that babies currently receive.  The volunteers, healthy newborns from Brigham and Women's Hospital and infants from Boston Children's Hospital's Neonatal Intensive Care Unit, will be divided into two groups.  One group will receive conventional state-mandated newborn screening, the other will receive conventional screening and genome sequencing.  Researchers will collect and analyze the genomic sequences, which may include information on potential causes of any birth defects, predispositions to future medical conditions and predictions about responses to certain drugs, and will return that information to parents and pediatricians to evaluate the medical, psychosocial and economic outcomes. 

"These analyses will help illuminate the full spectrum of benefits and risks associated with genome sequencing of newborns," said Beggs, director of the Manton Center for Orphan Disease Research and a professor of pediatrics and scientist in the Division of Genetics at Boston Children's Hospital.

This research project stems from a 2012 BRIght futures prize awarded to Dr. Green from the BWH Biomedical Research Institute and follows the start of a similar NIH-funded study at Brigham and Women's Hospital, the MedSeq Project, which is the first NIH-funded randomized clinical trial to study the integration of whole genome sequencing into the practice of adult medicine.  The Manton Center at Boston Children's is a multidisciplinary center for research into the causes and prevention of rare "orphan" diseases that is working with Claritas Genomics to develop genomic testing to enhance pediatric health.  

Beggs said, "Synergies between the MedSeq Project, the Manton Center, and this newborn sequencing project we are calling the BabySeq Project will help us discover how best to integrate genomic sequencing into medical care to benefit all adults, children and their families."

In addition to Green and Beggs, the project will be co-led by a multidisciplinary team of investigators in pediatrics, neonatology, genetics, psychology, ethics and newborn screening, including Ingrid Holm, MD, MPH, Peter Park, PhD, Timothy Yu, MD, PhD, Harvey Levy, MD, Pankaj Agrawal, MD, and Susan Waisbren, PhD at Boston Children's Hospital, Heidi Rehm, PhD, Richard Parad, MD, MPH; Steve Ringer, MD, PhD and Lise Johnson, MD at BWH, and Amy McGuire, PhD, JD at Baylor College of Medicine.