A national consortium of researchers, including Baylor College of Medicine, is studying the ins and outs of genome sequencing for newborn health screenings and beyond. Funded by the National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), the Newborn Sequencing in Genomic Medicine and Public Health consortium, called NSIGHT, will explore the important questions surrounding newborn sequencing in the clinical setting, such as what would happen if states began incorporating genome sequencing to find out more about a baby’s health, and what should parents learn about their baby’s genome?
Baylor’s Center for Medical Ethics and Health Policy, together with Brigham and Women’s Hospital and Boston Children’s Hospital, is the recipient of one of the four grants that make up the consortium. Overall, the consortium will work with parents and clinicians to develop evidence that may support guidelines for how genomic sequencing of newborns could be effectively and appropriately incorporated into the existing screening protocol and care of newborns.
“We are most interested in exploring the benefits and risks of this type of sequencing for the clinical care of newborns and how their parents respond to and perceive this information,” said Dr. Stacey Pereira, instructor in the Center for Medical Ethics and Health Policy at Baylor.
The Boston-based NSIGHT program is called the BabySeq Project, co-led by Dr. Robert Green of the Division of Genetics at Brigham and Women’s Hospital, Broad Institute and Harvard Medical School and Dr. Alan Beggs of the Manton Center for Orphan Disease Research at Boston Children’s Hospital and Harvard Medical School.
Enrollment of both healthy and sick babies for the BabySeq project is ongoing at Boston Children’s and Brigham and Women’s hospitals, with Baylor collecting and analyzing outcomes data via electronic surveys, which are distributed to the newborns’ parents and physicians. The Institute for Clinical and Translational Research at Baylor programs the surveys.
In the sick babies, this randomized clinical trial is asking whether genomic information can identify key clues that will accelerate diagnosis and improve outcomes. In the healthy babies, sequencing is uncovering unanticipated risk information, and the project is measuring downstream medical, behavioral and economic outcomes that follow.
Patients in the control arm receive the heel stick test, a standard method of screening newborns for major diseases, along with a detailed family history evaluation. Those in the experimental arm receive the heel stick test and family history evaluation in addition to whole exome sequencing.
“Our job within the NSIGHT consortium and BabySeq project is to analyze the outcomes of the study and gauge how parents respond to this information psychologically and behaviorally, and how useful physicians perceive it to be,” said Pereira. “We know from other studies that adults generally do not experience persistent psychological distress in response to receiving this type of information about themselves, but we want to know more about how it influences and impacts the psychosocial perception of parents of infants undergoing whole exome sequencing.”
“The NSIGHT project is a great example of collaboration across institutions, and across the country, to better understand the psychological and emotional impact of being able to understand a newborn’s genome in a much more in-depth way. The results of this study will be hugely valuable in decision making in the future, as this technology becomes more accessible and widely available to parents and physicians,” said Dr. Amy McGuire, director of the Center for Medical Ethics and Health Policy.
Participating sites are currently enrolling patients, and the studies will end in 2018. Other NSIGHT project institutions include UNC School of Medicine, UCSF School of Medicine and UCSD Rady Children’s Institute for Genomic Medicine and Children’s Mercy Kansas City.