Ep 189 Newborn screening: The future is here

Every year, millions of babies around the world are screened for dozens of treatable conditions within the first day or two of life. What it takes is a few drops of blood on some filter paper, and what it gives is profound: potentially life-saving information. The advent of newborn screening is one of the greatest public achievements of the 20th century; since their earliest implementation, screening programs have diagnosed hundreds of thousands of babies early enough for medical intervention. And the life-saving potential they hold continues to grow with the development of genomic sequencing technology, which will increase the number of screenable conditions by an order of magnitude. In this episode, we explore the serendipitous origins of newborn screening, what the process looks like from a parent’s perspective, and how cutting-edge technology could revolutionize these programs. To help us navigate the exciting future of newborn screening, Dr. Joshua Milner, Professor of Pediatrics and Director of Allergy Immunology and Rheumatology at Columbia University Medical Center joins us to discuss an ambitious research program at NewYork-Presbyterian hospitals titled the GUARDIAN study, or Genomic Uniform-screening Against Rare Disease in All Newborns. Tune in for a truly thrilling episode!

For more on the GUARDIAN study, the groundbreaking research program using genomic sequencing technology to screen newborns at NewYork-Presbyterian hospitals for hundreds of conditions, check out the Advances in Care podcast episode titled “Newborn Gene Sequencing: Expanding Early Detection of Treatable Diseases.”

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