Newborn genomic sequencing detects unanticipated disease risk factors

As genomic sequencing becomes increasingly commonplace in the clinic, questions remain about its use and role among newborns. Can sequencing provide actionable insights? How common is it to find something important to a child's future health? What benefits or consequences will sequencing have for families? The BabySeq Project, a joint endeavor led by investigators at Brigham and Women's Hospital and Boston Children's Hospital, with collaborators at the Baylor College of Medicine, is revealing the answers to these questions and more. In a paper published in the American Journal of Human Genetics, the research team reports that genomic sequencing can identify risk for a wide range of disorders that may not be detected otherwise. Importantly, early knowledge about several of these conditions can lead to surveillance and interventions that could improve health outcomes for newborns and their families.

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