New Study Will Explore DNA Testing In Newborns

baby hand image via shutterstock

Doctors at Brigham and Women’s Hospital and Boston Children’s Hospital are developing a new clinical trial to look at the effects of genome sequencing in newborn babies.

Genome sequencing—or the analysis of the entirety of a patient’s DNA—is currently scientifically possible and beneficial in the early diagnosis of genetic markers that can lead to future diseases and disabilities. Pediatric doctors at both Brigham and Women’s and Boston Children’s Hospital are currently developing a study and accompanying clinical trial to look at safe, effective methods of genome sequencing for babies. The proposed five year study—which is currently pending approval from the hospital’s human research board—will involve 480 newborns and their parents.

The participating babies—who will be newborn volunteers from Brigham and Women’s and infants from Boston Children’s Neonatal Intensive Care Unit—will be divided into two groups. One group will receive only the typical, state-mandated newborn screening, and the other will receive genome sequencing in addition to the state-mandated screening.

The information collected from the genome sequencing groups during the trial will be analyzed to look for information about potential causes of birth defects, increased risks for future medical conditions, and predictions about responses to medications. This information will then be returned to the parents and the newborns’ pediatricians and researchers will study the medical, psychological, and economic outcomes of possessing this information. The study is also looking to assess the relationship between the parents, the babies, and the pediatricians.

Dr. Robert C. Green of the Division of Genetics at Brigham and Women’s Hospital said in a press release:

“This first-of-its-kind study will accelerate the use of genomics in clinical pediatric medicine by creating and testing new methods on how to use the information provided by genomic sequencing in the medical care of newborns.”

The study hopes to begin enrollment in early 2014. The researchers involved hope that the information collected from this study will help future doctors better understand treatments for diseases with genetic markers.