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  • 1.  The Surprising Legacy of a Genetic Disorder - The Wall Street Journal 05/07/2022

    Posted 20 days ago

    This story from The Wall Street Journal opens a window to some interesting questions with implications for diagnosis.

    The Surprising Legacy of a Genetic Disorder

    Download the Wall Street Journal app here: WSJ.


    Sent from my iPhone

    David
    David L Meyers, MD  MBE FACEP
    410-952-8782


  • 2.  RE: The Surprising Legacy of a Genetic Disorder - The Wall Street Journal 05/07/2022

    Posted 20 days ago
      |   view attached

    Here is the Fragile X article

     

     

    Mark L Graber MD FACP

    Founder and President Emeritus, Society to Improve Diagnosis in Medicine

    Professor Emeritus, Stony Brook University, NY

    Cell:  919 667-8585

    Graber.Mark@Gmail.com

     

     






  • 3.  RE: The Surprising Legacy of a Genetic Disorder - The Wall Street Journal 05/07/2022

    Posted 19 days ago

    sooooo there is an interesting, ongoing and longstanding debate in the OB and genetics communities about "what" genetic conditions" and "how many" genetic conditions should be screened for both prenatally and in the newborn period...

    and of course, in the absence of professional society consensus, industry drives the usage and content of screening methodologies and content with ever enlarging genetic screening panels

    and of course, ACOG and ACMG publish different guidelines regarding who should receive what assays; I recently submitted an editorial to the "green journal" (aka "obstetrics and gynecoloy") about the need to create consensus on content and reviewed how the field of newborn screening is yearsssss ahead of prenatal screening in terms of creating standardized universal screening panels (the RUSP or recommended universal screening panel) ; this topic was debated just this weekend at the ACOG annual meeting

    genetic screening is complicated and messy for many reasons; there are manyyyyy erudite publications on this topic if people want to read more....

    PS: SIDM will be pleased to know that one of the lectures at ACOG annual meeting this weekend was "framing maternal mortality review from a diagnostic safety lens" ... We had lots of great conversation about SIDM and it's role in advancing education about dx error :)


    Tom

    Thomas Westover
    Chair NJ ACOG
    Chief Maternal Fetal Medicine and Perinatal Genetics
    Capital Health
    Assof Professor MFM
    Cooper Medical School
    Camden NJ