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Newborn genomic sequencing detects unanticipated disease risk factors

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  • Newborn genomic sequencing detects unanticipated disease risk factors

    Source: https://medicalxpress.com/news/2019-...d-disease.html


    Newborn genomic sequencing detects unanticipated disease risk factors
    January 3, 2019, Brigham and Women's Hospital

    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.

    "The BabySeq Project is the first randomized trial of sequencing in newborns and the first study to fully examine the wealth of unanticipated genetic risk information in children," said Robert Green, MD, MPH, co-director of the study at the Brigham and a professor at Harvard Medical School. "We were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention in the future."...
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