![]() ![]() In many cases in which DNA sequencing identifies a child at risk, a blood test or imaging study can then determine whether the disease condition is already underway, enabling early treatment. In addition to soliciting expert consensus, the authors consolidated recommendations for more than 600 genetic conditions from rare disease sub-specialists in order to offer clinical guidance when DNA screening was positive. The survey study was conducted between February and September of 2022, and the research team received responses from 238 experts. In our survey, they reached a striking consensus about the highest priority conditions to include." "Medical experts are now calling for more conditions to be included in newborn screening that can only be identified through DNA sequencing. "Early identification of infants who are at risk for genetic disorders can be lifesaving and screening has the potential to improve health care disparities for affected children," said lead author Nina Gold, MD, a medical geneticist at Massachusetts General Hospital for Children, a member of Mass General Brigham. Among the genes that most experts recommended for newborn screening were those associated with a lethal liver and brain disorder, the severe bleeding disorders known as hemophilia A and B, and an increased risk for retinoblastoma, a rare and fatal eye tumor in young children. The study further identified 432 gene-disease pairs that are not currently screened for, but that were recommended for newborn screening by more than 50% of the experts. In a study published today (May 8) in JAMA Network Open, 88% of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available to all newborns. Findings from a new study led by researchers at Mass General Brigham suggest that rare disease experts are now in favor of more expansive newborn testing. ![]()
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