Newborn Sequencing Delivers Some Unanticipated Findings

Newborn genomic sequencing (NGS) can identify risk for a wide range of disorders that otherwise may not be detected, even in seemingly healthy babies, according to a study published Jan. 3 in the American Journal of Human Genetics. Additionally, this early knowledge can lead to surveillance, interventions, or avoidance of some medications that can improve health outcomes for newborns and their families. “We were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention in the future,” said Robert Green, M.D., co-director of the BabySeq Project study, in a statement. BabySeq Project is a pilot randomized clinical trial that explores the medical, behavioral, and economic impacts of NGS. NGS has the potential to expand screening and clinical management, reduce the diagnostic odyssey for ill newborns, and provide information to guide future reproductive planning. Long-term, NGS can provide pharmacogenomic information that could be beneficial throughout the patient’s lifespan and can provide a genetic dataset available for reanalysis, as indications arise. However, variant interpretation and appropriate reporting of findings remain challenges. The researchers report on findings from NGS in 159 newborns (127 healthy newborns in well nurseries and 32 ill newborns in an intensive care unit […]