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Newborn Screening, Genetic Testing Varies by State: Part 2

How reporters can cover inequity in rare disease diagnosis. Many journalists know newborns are screened for rare diseases, but may not realize the “death by zip code” phenomenon. by Hope Kahn, National Press Foundation Between the first 24 and 48 hours of a baby’s birth in the U.S. healthcare system, they’re given a prick in the heel to draw blood that can be used to screen for rare diseases. Rady Children’s Institute for Genomic Medicine’s vice president Charlotte Hobbs agree but cautioned fellows that access is not equal for all babies. Newborn screening can prevent deaths and save lives. Rady Children’s Institute for Genomic Medicine and the University of San Diego received a grant from the National Institute of Health to study how much infant mortality was caused by genetic disease from 2015 to 2020, according to Hobbs. To do this, they performed whole genome screenings on 45 patients who died as infants. They found that 31% had a genetic disease that was not diagnosed prior to death – and that 57% of those genetic diseases have an effective treatment. The next horizon? Detecting rare disease when there are no symptoms. Hobbs said genomic screening should occur before babies reach the neonatal intensive care unit or the pediatric/cardiovascular ICUs, to identify molecular monogenic disorders among asymptomatic babies. Researchers at Rady have been exploring this realm over the past two years and have yielded a prototype that’s been published in three studies. “We also really want to think about how we can be part of a global initiative that is talking about using newborn genomic sequencing,” Hobbs said. Speaker: Charlotte Hobbs, Vice President, Research & Clinical Management, Rady Children's Institute for Genomic Medicine Takeaways, transcript and resources: https://nationalpress.org/topic/newbo... This program was sponsored by Fondation Ipsen. NPF is solely responsible for the content.