Imagine that immediately after birth, your baby could have a blood test to analyze his or her entire DNA sequence. Your pediatrician would receive a report that explains your baby’s genetic risks for developing diseases such as diabetes, heart disease, or cancer. Throughout your child’s life, health care providers could then integrate this information into a care plan for your child. For example, this data could compel a doctor to adjust your child’s diet or offer additional exams to screen for high-risk conditions during childhood.

Parents of some Boston-area newborns may soon have the opportunity to have their baby’s DNA completely analyzed as part of the first-ever clinical trial to explore the benefits and risks of genome sequencing (reading the entirety of a person’s DNA) in this age group. Though genomic sequencing is scientifically possible, the question remains how to use this information in providing medical care.

Dr. Robert C. Green, Division of Genetics at Brigham and Women’s Hospital and Dr. Alan H. Beggs, Division of Genetics at Boston Children’s Hospital, are leading a study to research effective, responsible ways to use DNA sequencing technology for newborn babies and their families. The five-year study, which is pending approval by the hospital board that governs human research, will assess a 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.

After refinement of the protocol and approval by institutional review boards, the study hopes to begin enrollment in 2014 and to 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 and the other will receive genome sequencing in addition to conventional screening.  Researchers will collect and analyze the genomic sequences, which may include information on potential causes of any birth defects, increased risks for future medical conditions, and predictions about responses to certain drugs.  The researchers plan to return this information to parents and pediatricians to study the medical, psychosocial, and economic outcomes.

“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,” says Dr. Green, who directs the Genomes2People Research Program in the Division of Genetics.

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